Anastasia Marina Palaiogeorgou, Eleni Papakonstantinou, Rebecca Golfinopoulou, Markezina Sigala, Thanasis Mitsis, Louis Papageorgiou, Io Diakou, Katerina Pierouli, Konstantina Dragoumani, Demetrios A Spandidos, Flora Bacopoulou, George P Chrousos, Elias Eliopoulos, Dimitrios Vlachakis
{"title":"亨廷顿舞蹈病的最新研究进展(综述)。","authors":"Anastasia Marina Palaiogeorgou, Eleni Papakonstantinou, Rebecca Golfinopoulou, Markezina Sigala, Thanasis Mitsis, Louis Papageorgiou, Io Diakou, Katerina Pierouli, Konstantina Dragoumani, Demetrios A Spandidos, Flora Bacopoulou, George P Chrousos, Elias Eliopoulos, Dimitrios Vlachakis","doi":"10.3892/br.2022.1587","DOIUrl":null,"url":null,"abstract":"<p><p>Huntington's disease (HD) is a neurodegenerative disorder characterized by severe motor, cognitive and psychiatric symptoms. Patients of all ages can present with a dysfunction of the nervous system, which leads to the progressive loss of movement control and disabilities in speech, swallowing, communications, etc. The molecular basis of the disease is well-known, as HD is related to a mutated gene, a trinucleotide expansion, which encodes to the huntingtin protein. This protein is linked to neurogenesis and the loss of its function leads to neurodegenerative disorders. Although the genetic cause of the disorder has been known for decades, no effective treatment is yet available to prevent onset or to eliminate the progression of symptoms. Thus, the present review focused on the development of novel methods for the timely and accurate diagnosis of HD in an aim to aid the development of therapies which may reduce the severity of the symptoms and control their progression. The majority of the therapies include gene-silencing mechanisms of the mutated huntingtin gene aiming to suppress its expression, and the use of various substances as drugs with highly promising results. In the present review, the latest approaches on the diagnosis of HD are discussed along with the need for genetic counseling and an up-to-date presentation of the applied treatments.</p>","PeriodicalId":8863,"journal":{"name":"Biomedical reports","volume":"18 1","pages":"5"},"PeriodicalIF":2.3000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e2/24/br-18-01-01587.PMC9756286.pdf","citationCount":"4","resultStr":"{\"title\":\"Recent approaches on Huntington's disease (Review).\",\"authors\":\"Anastasia Marina Palaiogeorgou, Eleni Papakonstantinou, Rebecca Golfinopoulou, Markezina Sigala, Thanasis Mitsis, Louis Papageorgiou, Io Diakou, Katerina Pierouli, Konstantina Dragoumani, Demetrios A Spandidos, Flora Bacopoulou, George P Chrousos, Elias Eliopoulos, Dimitrios Vlachakis\",\"doi\":\"10.3892/br.2022.1587\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Huntington's disease (HD) is a neurodegenerative disorder characterized by severe motor, cognitive and psychiatric symptoms. Patients of all ages can present with a dysfunction of the nervous system, which leads to the progressive loss of movement control and disabilities in speech, swallowing, communications, etc. The molecular basis of the disease is well-known, as HD is related to a mutated gene, a trinucleotide expansion, which encodes to the huntingtin protein. This protein is linked to neurogenesis and the loss of its function leads to neurodegenerative disorders. Although the genetic cause of the disorder has been known for decades, no effective treatment is yet available to prevent onset or to eliminate the progression of symptoms. Thus, the present review focused on the development of novel methods for the timely and accurate diagnosis of HD in an aim to aid the development of therapies which may reduce the severity of the symptoms and control their progression. The majority of the therapies include gene-silencing mechanisms of the mutated huntingtin gene aiming to suppress its expression, and the use of various substances as drugs with highly promising results. In the present review, the latest approaches on the diagnosis of HD are discussed along with the need for genetic counseling and an up-to-date presentation of the applied treatments.</p>\",\"PeriodicalId\":8863,\"journal\":{\"name\":\"Biomedical reports\",\"volume\":\"18 1\",\"pages\":\"5\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e2/24/br-18-01-01587.PMC9756286.pdf\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Biomedical reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3892/br.2022.1587\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, RESEARCH & EXPERIMENTAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biomedical reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3892/br.2022.1587","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
Recent approaches on Huntington's disease (Review).
Huntington's disease (HD) is a neurodegenerative disorder characterized by severe motor, cognitive and psychiatric symptoms. Patients of all ages can present with a dysfunction of the nervous system, which leads to the progressive loss of movement control and disabilities in speech, swallowing, communications, etc. The molecular basis of the disease is well-known, as HD is related to a mutated gene, a trinucleotide expansion, which encodes to the huntingtin protein. This protein is linked to neurogenesis and the loss of its function leads to neurodegenerative disorders. Although the genetic cause of the disorder has been known for decades, no effective treatment is yet available to prevent onset or to eliminate the progression of symptoms. Thus, the present review focused on the development of novel methods for the timely and accurate diagnosis of HD in an aim to aid the development of therapies which may reduce the severity of the symptoms and control their progression. The majority of the therapies include gene-silencing mechanisms of the mutated huntingtin gene aiming to suppress its expression, and the use of various substances as drugs with highly promising results. In the present review, the latest approaches on the diagnosis of HD are discussed along with the need for genetic counseling and an up-to-date presentation of the applied treatments.
期刊介绍:
Biomedical Reports is a monthly, peer-reviewed journal, dedicated to publishing research across all fields of biology and medicine, including pharmacology, pathology, gene therapy, genetics, microbiology, neurosciences, infectious diseases, molecular cardiology and molecular surgery. The journal provides a home for original research, case reports and review articles.