Pub Date : 2013-04-01DOI: 10.2174/1872215611307010011
Sonia Sanchez-Bautista, Francisco E Nicolas
Protein kinase C (PKC) comprises a family of 10 serine/threonine kinases divided into 3 subfamilies: classical, novel and atypical. These isoenzymes represent one of the major mediators of signal transduction, and most may be associated with several pathogenic processes including malignant transformation or cancer and metastasis. Moreover, some activated isoenzymes are also involved in other diseases such as infarct, rejection due to incomplete histocompatibility in organ transplantation, pain, diabetic macular edema, etc. Here, we review several patents related to inhibitors of PKC that represent a new and promising strategy for the prevention and treatment of these illnesses. Among these inhibitors, we included antisense oligonucleotides as another useful strategy to treat infectious and autoimmune diseases associated with misregulated expression of PKC and tumour necrosis factor alpha (TNF-α). On the other hand, two different activators of PKC and their applications related to neurodegenerative diseases have also been reviewed in this work.
{"title":"Recent patents concerning modulators of protein kinase C.","authors":"Sonia Sanchez-Bautista, Francisco E Nicolas","doi":"10.2174/1872215611307010011","DOIUrl":"https://doi.org/10.2174/1872215611307010011","url":null,"abstract":"<p><p>Protein kinase C (PKC) comprises a family of 10 serine/threonine kinases divided into 3 subfamilies: classical, novel and atypical. These isoenzymes represent one of the major mediators of signal transduction, and most may be associated with several pathogenic processes including malignant transformation or cancer and metastasis. Moreover, some activated isoenzymes are also involved in other diseases such as infarct, rejection due to incomplete histocompatibility in organ transplantation, pain, diabetic macular edema, etc. Here, we review several patents related to inhibitors of PKC that represent a new and promising strategy for the prevention and treatment of these illnesses. Among these inhibitors, we included antisense oligonucleotides as another useful strategy to treat infectious and autoimmune diseases associated with misregulated expression of PKC and tumour necrosis factor alpha (TNF-α). On the other hand, two different activators of PKC and their applications related to neurodegenerative diseases have also been reviewed in this work.</p>","PeriodicalId":74646,"journal":{"name":"Recent patents on DNA & gene sequences","volume":"7 1","pages":"74-81"},"PeriodicalIF":0.0,"publicationDate":"2013-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2174/1872215611307010011","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30973991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2013-04-01DOI: 10.2174/1872215611307010008
Romeo-Gabriel Mihăilă
Today, hematology is dependent on molecular biology for diagnosis, establishing the prognosis and treatment guidance in more and more diseases. One useful technique in this respect is the gene expression profiling, whose use is not yet a matter of routine. The discovery that the expression of LDL-receptor and cholesterol synthesis is increased in the cells of some leukemias and lymphomas and that some statins induced DNA damages and increased the level of reactive oxygen species, opens the possibility of using statins in the treatment of certain malignant hemopathies. Patents regarding their association with dipyridamole, retinoids, tipifarnib, cytostatics or chemotherapy programs contribute to increasing their effectiveness. Statins can increase the apoptosis of malignant cells and restore the chemosensitivity in patients with different malignant hemopathies. Techniques of molecular biology are useful for identifying patients who have indication for statins. The main adverse effects of statins are increased transaminase levels and myopathy. The last may be anticipated and treated today.
{"title":"Advances in the management of malignant hemopathies: the role of statins.","authors":"Romeo-Gabriel Mihăilă","doi":"10.2174/1872215611307010008","DOIUrl":"https://doi.org/10.2174/1872215611307010008","url":null,"abstract":"<p><p>Today, hematology is dependent on molecular biology for diagnosis, establishing the prognosis and treatment guidance in more and more diseases. One useful technique in this respect is the gene expression profiling, whose use is not yet a matter of routine. The discovery that the expression of LDL-receptor and cholesterol synthesis is increased in the cells of some leukemias and lymphomas and that some statins induced DNA damages and increased the level of reactive oxygen species, opens the possibility of using statins in the treatment of certain malignant hemopathies. Patents regarding their association with dipyridamole, retinoids, tipifarnib, cytostatics or chemotherapy programs contribute to increasing their effectiveness. Statins can increase the apoptosis of malignant cells and restore the chemosensitivity in patients with different malignant hemopathies. Techniques of molecular biology are useful for identifying patients who have indication for statins. The main adverse effects of statins are increased transaminase levels and myopathy. The last may be anticipated and treated today.</p>","PeriodicalId":74646,"journal":{"name":"Recent patents on DNA & gene sequences","volume":"7 1","pages":"57-61"},"PeriodicalIF":0.0,"publicationDate":"2013-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2174/1872215611307010008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30668524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2013-04-01DOI: 10.2174/1872215611307010003
T Sudhakar Johnson, Jyothi Badri, R Kalpana Sastry, Anshul Shrivastava, P B Kavi Kishor, M Sujatha
Due to depleting reserves of fossil fuels, political uncertainties, increase in demand of energy needs and growing concerns of environmental effects, bioenergy as an alternative source of energy needs had taken centre stage globally. In this report, we review the progress made in lignocellulose, cellulose and fermentation based biofuels in addition to tree borne oil seeds. Algae as a source of feedstock for the biofuel has also been reviewed. Recent efforts in genome sequencing of biofuel crops and molecular breeding approaches have increased our understanding towards crop improvement of major feedstocks. Besides, patenting trends in bioenergy sector were assessed by patent landscape analysis. The results showed an increasing trend in published patents during the last decade which is maximum during 2011. A conceptual framework of "transgenesis in biofuels to industrial application" was developed based on the patent analytics viz., International Patent Classification (IPC) analysis and Theme Maps. A detailed claim analysis based on the conceptual framework assessed the patenting trends that provided an exhaustive dimension of the technology. The study emphasizes the current thrust in bioenergy sector by various public and private institutions to expedite the process of biofuel production.
{"title":"Genetic improvement of biofuel plants: recent progress and patents.","authors":"T Sudhakar Johnson, Jyothi Badri, R Kalpana Sastry, Anshul Shrivastava, P B Kavi Kishor, M Sujatha","doi":"10.2174/1872215611307010003","DOIUrl":"https://doi.org/10.2174/1872215611307010003","url":null,"abstract":"<p><p>Due to depleting reserves of fossil fuels, political uncertainties, increase in demand of energy needs and growing concerns of environmental effects, bioenergy as an alternative source of energy needs had taken centre stage globally. In this report, we review the progress made in lignocellulose, cellulose and fermentation based biofuels in addition to tree borne oil seeds. Algae as a source of feedstock for the biofuel has also been reviewed. Recent efforts in genome sequencing of biofuel crops and molecular breeding approaches have increased our understanding towards crop improvement of major feedstocks. Besides, patenting trends in bioenergy sector were assessed by patent landscape analysis. The results showed an increasing trend in published patents during the last decade which is maximum during 2011. A conceptual framework of \"transgenesis in biofuels to industrial application\" was developed based on the patent analytics viz., International Patent Classification (IPC) analysis and Theme Maps. A detailed claim analysis based on the conceptual framework assessed the patenting trends that provided an exhaustive dimension of the technology. The study emphasizes the current thrust in bioenergy sector by various public and private institutions to expedite the process of biofuel production.</p>","PeriodicalId":74646,"journal":{"name":"Recent patents on DNA & gene sequences","volume":"7 1","pages":"2-12"},"PeriodicalIF":0.0,"publicationDate":"2013-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2174/1872215611307010003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30750858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Most types of bacteria produce bacteriocins, which are proteinaceous extracellular compounds that can inhibit the growth of other undesirable microorganisms. Bacteriocins are receiving increasing attention, due to their many applications, ranging from their initial application in strategies for food preservation to more recent proposed uses in biomedical strategies aimed at fighting certain bacterial infections. Thus, while nisin has a long history of use as a safe additive in certain food products for the purpose of food preservation, certain bacteriocin-producing lactic acid bacteria, which are generally recognised as safe microorganisms, or their extracellular extracts are receiving increased attention as protective cultures or antimicrobial extracts in minimally processed food products. More recently, a number of these bacteriocinproducing cultures have been proposed for use in other applications, such as in probiotics, for the inhibition of biofilms in the food industry, or even as coadjuvants of combined therapeutical strategies along with other antimicrobial agents in biomedical applications. This review aims to provide a brief overview of the most relevant recent patents in this field.
{"title":"Recent patents on bacteriocins: food and biomedical applications.","authors":"Zineb Benmechernene, Inmaculada Fernandez-No, Mebrouk Kihal, Karola Böhme, Pilar Calo-Mata, Jorge Barros-Velazquez","doi":"10.2174/1872215611307010010","DOIUrl":"https://doi.org/10.2174/1872215611307010010","url":null,"abstract":"<p><p>Most types of bacteria produce bacteriocins, which are proteinaceous extracellular compounds that can inhibit the growth of other undesirable microorganisms. Bacteriocins are receiving increasing attention, due to their many applications, ranging from their initial application in strategies for food preservation to more recent proposed uses in biomedical strategies aimed at fighting certain bacterial infections. Thus, while nisin has a long history of use as a safe additive in certain food products for the purpose of food preservation, certain bacteriocin-producing lactic acid bacteria, which are generally recognised as safe microorganisms, or their extracellular extracts are receiving increased attention as protective cultures or antimicrobial extracts in minimally processed food products. More recently, a number of these bacteriocinproducing cultures have been proposed for use in other applications, such as in probiotics, for the inhibition of biofilms in the food industry, or even as coadjuvants of combined therapeutical strategies along with other antimicrobial agents in biomedical applications. This review aims to provide a brief overview of the most relevant recent patents in this field.</p>","PeriodicalId":74646,"journal":{"name":"Recent patents on DNA & gene sequences","volume":"7 1","pages":"66-73"},"PeriodicalIF":0.0,"publicationDate":"2013-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2174/1872215611307010010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30856352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2012-12-01DOI: 10.2174/187221512802717295
Dov Greenbaum
{"title":"Editorial: Genetics And Athletics.","authors":"Dov Greenbaum","doi":"10.2174/187221512802717295","DOIUrl":"https://doi.org/10.2174/187221512802717295","url":null,"abstract":"","PeriodicalId":74646,"journal":{"name":"Recent patents on DNA & gene sequences","volume":"6 3","pages":"173-4"},"PeriodicalIF":0.0,"publicationDate":"2012-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2174/187221512802717295","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31009899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2012-12-01DOI: 10.2174/187221512802717277
Emmeline W Hill, Donal P Ryan, David E MacHugh
Variation at the myostatin (MSTN) gene locus has been shown to influence racing phenotypes in Thoroughbred horses, and in particular, early skeletal muscle development and the aptitude for racing at short distances. Specifically, a single nucleotide polymorphism (SNP) in the first intron of MSTN (g.66493737C/T) is highly predictive of best race distance among Flat racing Thoroughbreds: homozygous C/C horses are best suited to short distance races, heterozygous C/T horses are best suited to middle distance races, and homozygous T/T horses are best suited to longer distance races. Patent applications for this gene marker association, and other linked markers, have been filed. The information contained within the patent applications is exclusively licensed to the commercial biotechnology company Equinome Ltd, which provides a DNA-based test to the international Thoroughbred horse racing and breeding industry. The application of this information in the industry enables informed decision making in breeding and racing and can be used to assist selection to accelerate the rate of change of genetic types among distinct populations (Case Study 1) and within individual breeding operations (Case Study 2).
{"title":"Horses for courses: a DNA-based test for race distance aptitude in thoroughbred racehorses.","authors":"Emmeline W Hill, Donal P Ryan, David E MacHugh","doi":"10.2174/187221512802717277","DOIUrl":"https://doi.org/10.2174/187221512802717277","url":null,"abstract":"<p><p>Variation at the myostatin (MSTN) gene locus has been shown to influence racing phenotypes in Thoroughbred horses, and in particular, early skeletal muscle development and the aptitude for racing at short distances. Specifically, a single nucleotide polymorphism (SNP) in the first intron of MSTN (g.66493737C/T) is highly predictive of best race distance among Flat racing Thoroughbreds: homozygous C/C horses are best suited to short distance races, heterozygous C/T horses are best suited to middle distance races, and homozygous T/T horses are best suited to longer distance races. Patent applications for this gene marker association, and other linked markers, have been filed. The information contained within the patent applications is exclusively licensed to the commercial biotechnology company Equinome Ltd, which provides a DNA-based test to the international Thoroughbred horse racing and breeding industry. The application of this information in the industry enables informed decision making in breeding and racing and can be used to assist selection to accelerate the rate of change of genetic types among distinct populations (Case Study 1) and within individual breeding operations (Case Study 2).</p>","PeriodicalId":74646,"journal":{"name":"Recent patents on DNA & gene sequences","volume":"6 3","pages":"203-8"},"PeriodicalIF":0.0,"publicationDate":"2012-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30798316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2012-12-01DOI: 10.2174/187221512802717303
Shawneequa Callier
As genomic medicine continues to advance and inform clinical care, knowledge gained is likely to influence sports medicine and training practices. Susceptibility to injury, sudden cardiac failure, and other serious conditions may one day be tackled on a subclinical level through genetic testing programs. In addition, athletes may increasingly consider using genetic testing services to maximize their performance potential. This paper assesses the role of privacy and genetic discrimination laws that would apply to athletes who engage in genetic testing and the limits of these protections.
{"title":"Genetic privacy in sports: clearing the hurdles.","authors":"Shawneequa Callier","doi":"10.2174/187221512802717303","DOIUrl":"https://doi.org/10.2174/187221512802717303","url":null,"abstract":"<p><p>As genomic medicine continues to advance and inform clinical care, knowledge gained is likely to influence sports medicine and training practices. Susceptibility to injury, sudden cardiac failure, and other serious conditions may one day be tackled on a subclinical level through genetic testing programs. In addition, athletes may increasingly consider using genetic testing services to maximize their performance potential. This paper assesses the role of privacy and genetic discrimination laws that would apply to athletes who engage in genetic testing and the limits of these protections.</p>","PeriodicalId":74646,"journal":{"name":"Recent patents on DNA & gene sequences","volume":"6 3","pages":"224-8"},"PeriodicalIF":0.0,"publicationDate":"2012-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30790686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2012-12-01DOI: 10.2174/187221512802717286
Sonia M Suter
With recent advances in genetics, sports fans may soon have access to a new category of statistics: genetic information. With patented correlations between genetics and athletics, and with the emergence of a growing and unregulated market in direct-to-consumer ("DTC") genetic testing, fans may be able to obtain an athlete's genetic information on their own, as long as they can access any item that may have some DNA on it. In some jurisdictions, they may even be able to do so legally, notwithstanding the potential harms to the athletes and their privacy.
{"title":"From sweaty towels to genetic stats: stalking athletes for their genetic information.","authors":"Sonia M Suter","doi":"10.2174/187221512802717286","DOIUrl":"https://doi.org/10.2174/187221512802717286","url":null,"abstract":"<p><p>With recent advances in genetics, sports fans may soon have access to a new category of statistics: genetic information. With patented correlations between genetics and athletics, and with the emergence of a growing and unregulated market in direct-to-consumer (\"DTC\") genetic testing, fans may be able to obtain an athlete's genetic information on their own, as long as they can access any item that may have some DNA on it. In some jurisdictions, they may even be able to do so legally, notwithstanding the potential harms to the athletes and their privacy.</p>","PeriodicalId":74646,"journal":{"name":"Recent patents on DNA & gene sequences","volume":"6 3","pages":"189-92"},"PeriodicalIF":0.0,"publicationDate":"2012-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30739485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genes control biological processes such as muscle, cartilage and bone formation, muscle energy production and metabolism (mitochondriogenesis, lactic acid removal), blood and tissue oxygenation (erythropoiesis, angiogenesis, vasodilatation), all essential in sport and athletic performance. DNA sequence variations in such genes confer genetic advantages that can be exploited, or genetic 'barriers' that could be overcome to achieve optimal athletic performance. Predictive Genomic DNA Profiling for athletic performance reveals genetic variations that may be associated with better suitability for endurance, strength and speed sports, vulnerability to sports-related injuries and individualized nutritional requirements. Knowledge of genetic 'suitability' in respect to endurance capacity or strength and speed would lead to appropriate sport and athletic activity selection. Knowledge of genetic advantages and barriers would 'direct' an individualized training program, nutritional plan and nutritional supplementation to achieving optimal performance, overcoming 'barriers' that results from intense exercise and pressure under competition with minimum waste of time and energy and avoidance of health risks (hypertension, cardiovascular disease, inflammation, and musculoskeletal injuries) related to exercise, training and competition. Predictive Genomics DNA profiling for Athletics and Sports performance is developing into a tool for athletic activity and sport selection and for the formulation of individualized and personalized training and nutritional programs to optimize health and performance for the athlete. Human DNA sequences are patentable in some countries, while in others DNA testing methodologies [unless proprietary], are non patentable. On the other hand, gene and variant selection, genotype interpretation and the risk and suitability assigning algorithms based on the specific Genomic variants used are amenable to patent protection.
{"title":"Predictive genomics DNA profiling for athletic performance.","authors":"Marios Kambouris, Foteini Ntalouka, Georgios Ziogas, Nicola Maffulli","doi":"10.2174/187221512802717321","DOIUrl":"https://doi.org/10.2174/187221512802717321","url":null,"abstract":"<p><p>Genes control biological processes such as muscle, cartilage and bone formation, muscle energy production and metabolism (mitochondriogenesis, lactic acid removal), blood and tissue oxygenation (erythropoiesis, angiogenesis, vasodilatation), all essential in sport and athletic performance. DNA sequence variations in such genes confer genetic advantages that can be exploited, or genetic 'barriers' that could be overcome to achieve optimal athletic performance. Predictive Genomic DNA Profiling for athletic performance reveals genetic variations that may be associated with better suitability for endurance, strength and speed sports, vulnerability to sports-related injuries and individualized nutritional requirements. Knowledge of genetic 'suitability' in respect to endurance capacity or strength and speed would lead to appropriate sport and athletic activity selection. Knowledge of genetic advantages and barriers would 'direct' an individualized training program, nutritional plan and nutritional supplementation to achieving optimal performance, overcoming 'barriers' that results from intense exercise and pressure under competition with minimum waste of time and energy and avoidance of health risks (hypertension, cardiovascular disease, inflammation, and musculoskeletal injuries) related to exercise, training and competition. Predictive Genomics DNA profiling for Athletics and Sports performance is developing into a tool for athletic activity and sport selection and for the formulation of individualized and personalized training and nutritional programs to optimize health and performance for the athlete. Human DNA sequences are patentable in some countries, while in others DNA testing methodologies [unless proprietary], are non patentable. On the other hand, gene and variant selection, genotype interpretation and the risk and suitability assigning algorithms based on the specific Genomic variants used are amenable to patent protection.</p>","PeriodicalId":74646,"journal":{"name":"Recent patents on DNA & gene sequences","volume":"6 3","pages":"229-39"},"PeriodicalIF":0.0,"publicationDate":"2012-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2174/187221512802717321","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30786527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2012-12-01DOI: 10.2174/187221512802717358
A V September, M Posthumus, M Collins
Musculoskeletal soft tissue injuries such as Achilles tendinopathy and anterior cruciate ligament ruptures are common among elite athletes, recreational athletes and physically active individuals. The consequences of injury may be devastating and prevent the recreational or competitive athlete from reaching their potential or lead to a premature end to their careers. Although these injuries have been well described at a clinical level, the biological mechanisms causing these injuries are poorly understood. A further understanding of the biological mechanisms underlying the injury will assist the treatment and management of these injuries. In addition, understanding the biology is an important prerequisite in developing models that can be used to effectively identify risk, as well as, implement personalized prevention, treatment and rehabilitation programmes. Both intrinsic, including genetic variants, and extrinsic risk factors have nevertheless been implicated in the aetiology of these injuries. To date, several patents have been filed which involve the use of specific polymorphisms and regions within specific genes to be used in a genetic test for either tendon or ligament injury risk. The objective of this manuscript will be to review the evidence for the genetic predisposition to soft tissue injury, as well as the application of this data in the prevention, treatment and management of musculoskeletal soft tissue injuries.
{"title":"Application of genomics in the prevention, treatment and management of Achilles tendinopathy and anterior cruciate ligament ruptures.","authors":"A V September, M Posthumus, M Collins","doi":"10.2174/187221512802717358","DOIUrl":"https://doi.org/10.2174/187221512802717358","url":null,"abstract":"<p><p>Musculoskeletal soft tissue injuries such as Achilles tendinopathy and anterior cruciate ligament ruptures are common among elite athletes, recreational athletes and physically active individuals. The consequences of injury may be devastating and prevent the recreational or competitive athlete from reaching their potential or lead to a premature end to their careers. Although these injuries have been well described at a clinical level, the biological mechanisms causing these injuries are poorly understood. A further understanding of the biological mechanisms underlying the injury will assist the treatment and management of these injuries. In addition, understanding the biology is an important prerequisite in developing models that can be used to effectively identify risk, as well as, implement personalized prevention, treatment and rehabilitation programmes. Both intrinsic, including genetic variants, and extrinsic risk factors have nevertheless been implicated in the aetiology of these injuries. To date, several patents have been filed which involve the use of specific polymorphisms and regions within specific genes to be used in a genetic test for either tendon or ligament injury risk. The objective of this manuscript will be to review the evidence for the genetic predisposition to soft tissue injury, as well as the application of this data in the prevention, treatment and management of musculoskeletal soft tissue injuries.</p>","PeriodicalId":74646,"journal":{"name":"Recent patents on DNA & gene sequences","volume":"6 3","pages":"216-23"},"PeriodicalIF":0.0,"publicationDate":"2012-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2174/187221512802717358","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30739454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}