J. Backes, T. Dayspring, D. Hoefner, J. Contois, J. Mcconnell, P. Moriarty
Abstract Isolated asymptomatic glycerol kinase deficiency (GKD) or ‘pseudohypertriglyceridemia’, is an X-linked recessive disorder resulting in hyperglyceroluria and hyperglycerolemia. Patients typically present with hypertriglyceridemia, which is unresponsive to therapy. The falsely elevated triglycerides are a result of clinical laboratories utilizing glycerol levels to report triglyceride concentrations. Glycerol blanking will account for the excess glycerol and provide accurate triglyceride measures. Pseudohypertriglyceridemia is linked to glucose impairment and other forms of GKD involving childhood metabolic crises and developmental limitations. Identifying patients with pseudohypertriglyceridemia prevents overestimation of cardiovascular risk and exposure to unnecessary lipid-altering agents; and heightens the awareness of the potential for symptomatic GKD in male offspring. We urge clinical labs to provide a glycerol-blanked triglyceride measurement for known or suspected pseudohypertriglyceridemia.
{"title":"Identifying pseudohypertriglyceridemia in clinical practice","authors":"J. Backes, T. Dayspring, D. Hoefner, J. Contois, J. Mcconnell, P. Moriarty","doi":"10.2217/clp.14.52","DOIUrl":"https://doi.org/10.2217/clp.14.52","url":null,"abstract":"Abstract Isolated asymptomatic glycerol kinase deficiency (GKD) or ‘pseudohypertriglyceridemia’, is an X-linked recessive disorder resulting in hyperglyceroluria and hyperglycerolemia. Patients typically present with hypertriglyceridemia, which is unresponsive to therapy. The falsely elevated triglycerides are a result of clinical laboratories utilizing glycerol levels to report triglyceride concentrations. Glycerol blanking will account for the excess glycerol and provide accurate triglyceride measures. Pseudohypertriglyceridemia is linked to glucose impairment and other forms of GKD involving childhood metabolic crises and developmental limitations. Identifying patients with pseudohypertriglyceridemia prevents overestimation of cardiovascular risk and exposure to unnecessary lipid-altering agents; and heightens the awareness of the potential for symptomatic GKD in male offspring. We urge clinical labs to provide a glycerol-blanked triglyceride measurement for known or suspected pseudohypertriglyceridemia.","PeriodicalId":55252,"journal":{"name":"Clinical Lipidology","volume":"68 10 1","pages":"625 - 641"},"PeriodicalIF":0.0,"publicationDate":"2014-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83217389","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}
Abstract N-3 polyunsaturated long chain fatty acids and especially eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) are known to limit inflammation and to improve its resolution. The benefits resulting from the use of EPA and DHA are numerous, they are used for treating asthma and arthritis, for controlling blood pressure and vascular reactivity and have been shown to have antitumor effect. While the effects of these polyunsaturated fatty acids on improving the resolution of inflammation are well evidenced, the mechanisms involved in this process remained unclear until the discovery of protectins and resolvins. The goal of this paper is to give an overview on the biosynthesis, the metabolism and the biochemical and physiological functions of these molecules derived from EPA and DHA.
{"title":"Biosynthesis, metabolism and function of protectins and resolvins","authors":"J. Demarquoy, F. L. Borgne","doi":"10.2217/clp.14.44","DOIUrl":"https://doi.org/10.2217/clp.14.44","url":null,"abstract":"Abstract N-3 polyunsaturated long chain fatty acids and especially eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) are known to limit inflammation and to improve its resolution. The benefits resulting from the use of EPA and DHA are numerous, they are used for treating asthma and arthritis, for controlling blood pressure and vascular reactivity and have been shown to have antitumor effect. While the effects of these polyunsaturated fatty acids on improving the resolution of inflammation are well evidenced, the mechanisms involved in this process remained unclear until the discovery of protectins and resolvins. The goal of this paper is to give an overview on the biosynthesis, the metabolism and the biochemical and physiological functions of these molecules derived from EPA and DHA.","PeriodicalId":55252,"journal":{"name":"Clinical Lipidology","volume":"70 1","pages":"683 - 693"},"PeriodicalIF":0.0,"publicationDate":"2014-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82344756","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}
Jay Edelberg is an MD PhD graduate of Duke University in Durham, North Carolina, USA and trained in clinical cardiology at the Beth Israel Deaconess Medical Center in Boston. From 1999 to 2006, Dr Edelberg served as CCU cardiologist and led the Cardiac Vascular Biology Research Laboratory at Weill-Cornell Medical Center, with a specific research focus on cardiovascular stem cells and biomarkers of cardiac aging. In 2006, Dr Edelberg became Director of Cardiovascular Urogenital Biomarker research at GlaxoSmithKline. Two years later, he moved to Bristol-Myers Squibb and progressed to become the US medical lead for Eliquis (apixaban). He joined Sanofi in 2012 as Vice President and Head of the newly formed PCSK9 Development & Launch Unit, reporting to Elias Zerhouni, President, Global R&D and Hanspeter Spek, President, Global Operations, Sanofi. Over the years, Dr Edelberg has published more than 75 peer-reviewed publications and has participated in numerous research and peer-review committees, including those of the National Institutes of Health (NIH), American Heart Association (AHA) and the California Institute for Regenerative Medicine (CIRM). He currently sits on the American Federation for Aging Research Board of Directors and is a Section Editor for the journal Aging Cell.
Jay Edelberg博士毕业于美国北卡罗来纳州达勒姆的杜克大学，曾在波士顿Beth Israel Deaconess医疗中心接受临床心脏病学培训。从1999年到2006年，Edelberg博士担任CCU心脏病专家，并领导威尔-康奈尔医学中心的心血管生物学研究实验室，专门研究心血管干细胞和心脏衰老的生物标志物。2006年，Edelberg博士成为葛兰素史克(GlaxoSmithKline)心血管泌尿生殖生物标志物研究主任。两年后，他跳槽到百时美施贵宝(Bristol-Myers Squibb)，并成为Eliquis(阿哌沙班)的美国医学负责人。他于2012年加入赛诺菲，担任新成立的PCSK9开发和发布部门的副总裁兼主管，向赛诺菲全球研发总裁Elias Zerhouni和全球运营总裁Hanspeter Spek汇报。多年来，Edelberg博士发表了超过75篇同行评议的出版物，并参加了许多研究和同行评议委员会，包括美国国立卫生研究院(NIH)、美国心脏协会(AHA)和加州再生医学研究所(CIRM)。他目前是美国老龄化研究委员会的成员，也是《衰老细胞》杂志的编辑。
{"title":"Lowering LDL-C with alirocumab, an investigational PCSK9 inhibitor","authors":"J. Edelberg","doi":"10.2217/clp.14.55","DOIUrl":"https://doi.org/10.2217/clp.14.55","url":null,"abstract":"Jay Edelberg is an MD PhD graduate of Duke University in Durham, North Carolina, USA and trained in clinical cardiology at the Beth Israel Deaconess Medical Center in Boston. From 1999 to 2006, Dr Edelberg served as CCU cardiologist and led the Cardiac Vascular Biology Research Laboratory at Weill-Cornell Medical Center, with a specific research focus on cardiovascular stem cells and biomarkers of cardiac aging. In 2006, Dr Edelberg became Director of Cardiovascular Urogenital Biomarker research at GlaxoSmithKline. Two years later, he moved to Bristol-Myers Squibb and progressed to become the US medical lead for Eliquis (apixaban). He joined Sanofi in 2012 as Vice President and Head of the newly formed PCSK9 Development & Launch Unit, reporting to Elias Zerhouni, President, Global R&D and Hanspeter Spek, President, Global Operations, Sanofi. Over the years, Dr Edelberg has published more than 75 peer-reviewed publications and has participated in numerous research and peer-review committees, including those of the National Institutes of Health (NIH), American Heart Association (AHA) and the California Institute for Regenerative Medicine (CIRM). He currently sits on the American Federation for Aging Research Board of Directors and is a Section Editor for the journal Aging Cell.","PeriodicalId":55252,"journal":{"name":"Clinical Lipidology","volume":"45 1","pages":"603 - 606"},"PeriodicalIF":0.0,"publicationDate":"2014-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81282568","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}
The development of therapies for neuropsychiatric disorders is hampered by the lack of understanding of the mechanisms underlying their pathologies. While aberrant sphingolipid metabolism is associated with psychiatric illness, the role of sphingolipids in these disorders is not understood. The genetically tractable yeast model can be exploited in order to elucidate the cellular consequences of sphingolipid perturbation. Hypotheses generated from studies in yeast and tested in mammalian cells may contribute to our understanding of the role of sphingolipids in psychiatric disorders and to the development of new treatments. Here, we compare sphingolipid metabolism in yeast and mammalian cells, discuss studies implicating sphingolipids in psychiatric disorders and propose approaches that utilize yeast in order to elucidate sphingolipid function and identify drugs that target sphingolipid synthesis.
{"title":"Harnessing the power of yeast to elucidate the role of sphingolipids in metabolic and signaling processes pertinent to psychiatric disorders.","authors":"Shyamalagauri Jadhav, Miriam L Greenberg","doi":"10.2217/clp.14.47","DOIUrl":"https://doi.org/10.2217/clp.14.47","url":null,"abstract":"<p><p>The development of therapies for neuropsychiatric disorders is hampered by the lack of understanding of the mechanisms underlying their pathologies. While aberrant sphingolipid metabolism is associated with psychiatric illness, the role of sphingolipids in these disorders is not understood. The genetically tractable yeast model can be exploited in order to elucidate the cellular consequences of sphingolipid perturbation. Hypotheses generated from studies in yeast and tested in mammalian cells may contribute to our understanding of the role of sphingolipids in psychiatric disorders and to the development of new treatments. Here, we compare sphingolipid metabolism in yeast and mammalian cells, discuss studies implicating sphingolipids in psychiatric disorders and propose approaches that utilize yeast in order to elucidate sphingolipid function and identify drugs that target sphingolipid synthesis.</p>","PeriodicalId":55252,"journal":{"name":"Clinical Lipidology","volume":"9 5","pages":"533-551"},"PeriodicalIF":0.0,"publicationDate":"2014-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2217/clp.14.47","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33112311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sanja Soskić, E. Stokic, M. Obradović, Emina Sudar, Nasta Tanić, A. Kupusinac, J. Djordjevic, E. Isenovic
Abstract Aim: The aim of this pilot study was to investigate possible associations of LEP promoter polymorphism LEP G-2548A and obesity-associated metabolic and antropometric parameters in obese population. Materials & methods: Group of 31 patients with hyperalimentary type of obesity (mean age: 39.26 ± 11.45 years; BMI: 41.51 ± 9.22 kg/m2) and 36 healthy, nonobese, normal weight subjects (mean age: 33.55 ± 6.46 years; BMI: 22.63 ± 1.94 kg/m2) were studied. Blood samples were collected for DNA isolation, serum leptin and serum lipids measurements. LEP G-2548A genotypes were determined by PCR restriction fragment length polymorphism based analyses. Results: No significant differences in genotype and allele frequencies of the LEP G-2548A polymorphism were detected between obese and normal weight subjects. No association was found between this polymorphism and BMI. Obese subjects had statistically significant increase in serum leptin levels compared with control, while no association between leptin concentration and LEP polymorphism LEP G-2548A was found. There is a statistically significant association of LEP G-2548A genotypes with LDL (p < 0.05), LDL/HDL ratio (p < 0.001), apoB (p < 0.01), body weight (p < 0.001) and waist circumference (p < 0.001). Conclusion: Our findings indicate that there is an association between LEP G-2548A polymorphism and metabolic and anthropometric parameters in obese patients in a Serbian population.
{"title":"Association of leptin gene polymorphism G-2548A with metabolic and anthropometric parameters in obese patients in a Serbian population: pilot study","authors":"Sanja Soskić, E. Stokic, M. Obradović, Emina Sudar, Nasta Tanić, A. Kupusinac, J. Djordjevic, E. Isenovic","doi":"10.2217/clp.14.42","DOIUrl":"https://doi.org/10.2217/clp.14.42","url":null,"abstract":"Abstract Aim: The aim of this pilot study was to investigate possible associations of LEP promoter polymorphism LEP G-2548A and obesity-associated metabolic and antropometric parameters in obese population. Materials & methods: Group of 31 patients with hyperalimentary type of obesity (mean age: 39.26 ± 11.45 years; BMI: 41.51 ± 9.22 kg/m2) and 36 healthy, nonobese, normal weight subjects (mean age: 33.55 ± 6.46 years; BMI: 22.63 ± 1.94 kg/m2) were studied. Blood samples were collected for DNA isolation, serum leptin and serum lipids measurements. LEP G-2548A genotypes were determined by PCR restriction fragment length polymorphism based analyses. Results: No significant differences in genotype and allele frequencies of the LEP G-2548A polymorphism were detected between obese and normal weight subjects. No association was found between this polymorphism and BMI. Obese subjects had statistically significant increase in serum leptin levels compared with control, while no association between leptin concentration and LEP polymorphism LEP G-2548A was found. There is a statistically significant association of LEP G-2548A genotypes with LDL (p < 0.05), LDL/HDL ratio (p < 0.001), apoB (p < 0.01), body weight (p < 0.001) and waist circumference (p < 0.001). Conclusion: Our findings indicate that there is an association between LEP G-2548A polymorphism and metabolic and anthropometric parameters in obese patients in a Serbian population.","PeriodicalId":55252,"journal":{"name":"Clinical Lipidology","volume":"62 1","pages":"505 - 513"},"PeriodicalIF":0.0,"publicationDate":"2014-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90119147","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}
Jessica S Ross, S. Russo, Georgia C Chavis, L. Cowart
Abstract Climbing obesity rates have contributed to worldwide increases in obesity-associated diseases, including the metabolic syndrome and Type 2 diabetes mellitus (T2DM). Sphingolipids, an important class of structural and signaling lipids, have emerged as key players in the development and pathogenesis of insulin resistance and T2DM. More specifically, sphingolipids have been demonstrated to play integral roles in lipotoxicity and other aspects of pathogenesis in T2DM, although the cellular mechanisms by which this occurs and by which sphingolipid metabolism is dysregulated in T2DM remain under investigation. This review summarizes current knowledge of sphingolipid metabolism and signaling in key organs and tissues affected by T2DM, including the pancreas, adipose tissue, skeletal muscle, cardiovascular system and liver, and highlights areas that ripe for future investigation.
{"title":"Sphingolipid regulators of cellular dysfunction in Type 2 diabetes mellitus: a systems overview","authors":"Jessica S Ross, S. Russo, Georgia C Chavis, L. Cowart","doi":"10.2217/clp.14.37","DOIUrl":"https://doi.org/10.2217/clp.14.37","url":null,"abstract":"Abstract Climbing obesity rates have contributed to worldwide increases in obesity-associated diseases, including the metabolic syndrome and Type 2 diabetes mellitus (T2DM). Sphingolipids, an important class of structural and signaling lipids, have emerged as key players in the development and pathogenesis of insulin resistance and T2DM. More specifically, sphingolipids have been demonstrated to play integral roles in lipotoxicity and other aspects of pathogenesis in T2DM, although the cellular mechanisms by which this occurs and by which sphingolipid metabolism is dysregulated in T2DM remain under investigation. This review summarizes current knowledge of sphingolipid metabolism and signaling in key organs and tissues affected by T2DM, including the pancreas, adipose tissue, skeletal muscle, cardiovascular system and liver, and highlights areas that ripe for future investigation.","PeriodicalId":55252,"journal":{"name":"Clinical Lipidology","volume":"31 1","pages":"553 - 569"},"PeriodicalIF":0.0,"publicationDate":"2014-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78618357","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}
O. Mayer, J. Seidlerová, J. Bruthans, Katarína Timoracká, Petra Vágovičová, J. Vaněk, P. Wohlfahrt, J. Filipovský, R. Cífková
Abstract Aim: The definition of metabolic syndrome (MetSy) in patients with coronary heart disease (CHD) remains problematic because of concomitant treatment. We speculate, which definition is suitable in terms of long-term glycemic status. Methods: We analyzed 979 patients with stable CHD. Four different MetSy definitions were used: ‘standard Adult Treatment Panel III (ATP)’, ‘modified ATP’ (not using antihypertensive treatment as an alternative criterion), ‘atherogenic dyslipidemia’ or ‘hypertriglyceridemic waist’. Results: The presence of ‘hypertriglyceridemic waist’ was associated with almost twofold higher risk (OR 1.79; 95% CI: 1.19 – 2.68) of hemoglobin A1c ≥48. Predictive power of standard or modified ATP definitions diminished after adjustment. Conclusion: In CHD patients, the simplified MetSy definition using ‘hypertriglyceridemic waist’ provides better prediction for glycemic control than ATP definition.
{"title":"Hypertriglyceridemic waist increased risk of inappropriate glucose control in patients with coronary heart disease","authors":"O. Mayer, J. Seidlerová, J. Bruthans, Katarína Timoracká, Petra Vágovičová, J. Vaněk, P. Wohlfahrt, J. Filipovský, R. Cífková","doi":"10.2217/clp.14.49","DOIUrl":"https://doi.org/10.2217/clp.14.49","url":null,"abstract":"Abstract Aim: The definition of metabolic syndrome (MetSy) in patients with coronary heart disease (CHD) remains problematic because of concomitant treatment. We speculate, which definition is suitable in terms of long-term glycemic status. Methods: We analyzed 979 patients with stable CHD. Four different MetSy definitions were used: ‘standard Adult Treatment Panel III (ATP)’, ‘modified ATP’ (not using antihypertensive treatment as an alternative criterion), ‘atherogenic dyslipidemia’ or ‘hypertriglyceridemic waist’. Results: The presence of ‘hypertriglyceridemic waist’ was associated with almost twofold higher risk (OR 1.79; 95% CI: 1.19 – 2.68) of hemoglobin A1c ≥48. Predictive power of standard or modified ATP definitions diminished after adjustment. Conclusion: In CHD patients, the simplified MetSy definition using ‘hypertriglyceridemic waist’ provides better prediction for glycemic control than ATP definition.","PeriodicalId":55252,"journal":{"name":"Clinical Lipidology","volume":"47 1","pages":"515 - 522"},"PeriodicalIF":0.0,"publicationDate":"2014-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80351920","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}
Abstract Mipomersen (Kynamro® [mipomersen sodium injection]; Genzyme, a Sanofi Company, MA, USA) is indicated as an adjunct to lipid-lowering medications and diet to reduce LDL-C, apoB, total cholesterol and non-HDL cholesterol in patients with homozygous familial hypercholesterolemia. In a 6-month Phase III trial (n = 51), mean percent change in LDL-C was -25% (95% CI: -32 to -18) versus placebo -3% (95% CI: -12 to 5; p < 0.001). The absolute mean LDL-C reduction was 113 mg/dl (2.92 mmol/l). Lipoprotein(a) was also significantly lowered by -31% (95% CI: -39 to -23) versus placebo -8% (95% CI: -19 to 3; p < 0.01). Some patients experienced transient and generally reversible hepatic effects, mild-to-moderate injection site reactions and flu-like symptoms. The mechanism of action and metabolism of mipomersen makes drug–drug interactions unlikely.
{"title":"The effects of mipomersen, a secondgeneration antisense oligonucleotide, on atherogenic (apoB-containing) lipoproteins in the treatment of homozygous familial hypercholesterolemia","authors":"M. McGowan, P. Moriarty, J. Backes","doi":"10.2217/clp.14.43","DOIUrl":"https://doi.org/10.2217/clp.14.43","url":null,"abstract":"Abstract Mipomersen (Kynamro® [mipomersen sodium injection]; Genzyme, a Sanofi Company, MA, USA) is indicated as an adjunct to lipid-lowering medications and diet to reduce LDL-C, apoB, total cholesterol and non-HDL cholesterol in patients with homozygous familial hypercholesterolemia. In a 6-month Phase III trial (n = 51), mean percent change in LDL-C was -25% (95% CI: -32 to -18) versus placebo -3% (95% CI: -12 to 5; p < 0.001). The absolute mean LDL-C reduction was 113 mg/dl (2.92 mmol/l). Lipoprotein(a) was also significantly lowered by -31% (95% CI: -39 to -23) versus placebo -8% (95% CI: -19 to 3; p < 0.01). Some patients experienced transient and generally reversible hepatic effects, mild-to-moderate injection site reactions and flu-like symptoms. The mechanism of action and metabolism of mipomersen makes drug–drug interactions unlikely.","PeriodicalId":55252,"journal":{"name":"Clinical Lipidology","volume":"84 1","pages":"487 - 503"},"PeriodicalIF":0.0,"publicationDate":"2014-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91328273","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}
Abstract “...the nanoliposomes developed have the potental to be used for the therapy/ diagnosis of Alzheimer’s disease, providing that future in vivo studies verify the in vitro results.”
摘要“…开发的纳米脂质体具有用于治疗/诊断阿尔茨海默病的潜力，提供未来的体内研究验证体外结果。”
{"title":"Potential of nanoliposomes for the therapy and/or diagnosis of Alzheimer’s disease: recent progress","authors":"S. Antimisiaris","doi":"10.2217/clp.14.33","DOIUrl":"https://doi.org/10.2217/clp.14.33","url":null,"abstract":"Abstract “...the nanoliposomes developed have the potental to be used for the therapy/ diagnosis of Alzheimer’s disease, providing that future in vivo studies verify the in vitro results.”","PeriodicalId":55252,"journal":{"name":"Clinical Lipidology","volume":"56 1","pages":"477 - 481"},"PeriodicalIF":0.0,"publicationDate":"2014-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81553898","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}
Fathimath Faiz, L. Nguyen, F. M. Bockxmeer, A. Hooper
Abstract Familial hypercholesterolemia (FH) is a common inherited disorder that causes premature atherosclerosis due to defective clearance of LDL. With current mutation screening strategies, the success rate of finding a causative LDLR or other mutation in a clinically diagnosed FH patient is approximately 70–80%. High-throughput next-generation sequencing approaches are now being introduced to not only identify mutations in genes not previously suspected to be important to FH, but also to screen the currently known gene variants more comprehensively with greater success. Where conventional methods have failed to disclose a causative mutation in one of the known genes, a polygenic mode of inheritance has been proposed to account for FH in these ‘mutation-negative’ patients. Identifying the precise molecular basis of the disorder is important for family cascade screening as well as to optimize treatment and clinical management, thereby preventing the otherwise fatal consequences of undiagnosed and untreated FH.
{"title":"Genetic screening to improve the diagnosis of familial hypercholesterolemia","authors":"Fathimath Faiz, L. Nguyen, F. M. Bockxmeer, A. Hooper","doi":"10.2217/clp.14.32","DOIUrl":"https://doi.org/10.2217/clp.14.32","url":null,"abstract":"Abstract Familial hypercholesterolemia (FH) is a common inherited disorder that causes premature atherosclerosis due to defective clearance of LDL. With current mutation screening strategies, the success rate of finding a causative LDLR or other mutation in a clinically diagnosed FH patient is approximately 70–80%. High-throughput next-generation sequencing approaches are now being introduced to not only identify mutations in genes not previously suspected to be important to FH, but also to screen the currently known gene variants more comprehensively with greater success. Where conventional methods have failed to disclose a causative mutation in one of the known genes, a polygenic mode of inheritance has been proposed to account for FH in these ‘mutation-negative’ patients. Identifying the precise molecular basis of the disorder is important for family cascade screening as well as to optimize treatment and clinical management, thereby preventing the otherwise fatal consequences of undiagnosed and untreated FH.","PeriodicalId":55252,"journal":{"name":"Clinical Lipidology","volume":"1 1","pages":"523 - 532"},"PeriodicalIF":0.0,"publicationDate":"2014-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89490139","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}
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