Dermal Fibroblast Cell Line from a Patient with the Huntington’s Disease as a Promising Model for Studying Disease Pathogenesis: Production and Characterization
Nina Kraskovskaya, Anna Koltsova, Polina Parfenova, Alla Shatrova, Natalya Yartseva, Vladimir Nazarov, Ekaterina Devyatkina, Mikhail Khotin, Natalia Mikhailova
{"title":"Dermal Fibroblast Cell Line from a Patient with the Huntington’s Disease as a Promising Model for Studying Disease Pathogenesis: Production and Characterization","authors":"Nina Kraskovskaya, Anna Koltsova, Polina Parfenova, Alla Shatrova, Natalya Yartseva, Vladimir Nazarov, Ekaterina Devyatkina, Mikhail Khotin, Natalia Mikhailova","doi":"10.1134/S000629792407006X","DOIUrl":null,"url":null,"abstract":"<p>Huntington’s disease (HD) is an incurable hereditary disease caused by expansion of the CAG repeats in the <i>HTT</i> gene encoding the mutant huntingtin protein (mHTT). Despite numerous studies in cellular and animal models, the mechanisms underlying the biological role of mHTT and its toxicity to striatal neurons have not yet been established and no effective therapy for HD patients has been developed so far. We produced and characterized a new line of dermal fibroblasts (HDDF, Huntington’s disease dermal fibroblasts) from a patient with a confirmed HD diagnosis. We also studied the growth characteristics of HDDF cells, stained them for canonical markers, karyotyped these cells, and investigated their phenotype. HDDF cells was successfully reprogrammed into induced striatal neurons via transdifferentiation. The new fibroblast line can be used as a cell model to study the biological role of mHTT and manifestations of HD pathogenesis in both fibroblasts and induced neuronal cells obtained from them by reprogramming techniques.</p>","PeriodicalId":483,"journal":{"name":"Biochemistry (Moscow)","volume":"89 7","pages":"1239 - 1250"},"PeriodicalIF":2.3000,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biochemistry (Moscow)","FirstCategoryId":"99","ListUrlMain":"https://link.springer.com/article/10.1134/S000629792407006X","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Huntington’s disease (HD) is an incurable hereditary disease caused by expansion of the CAG repeats in the HTT gene encoding the mutant huntingtin protein (mHTT). Despite numerous studies in cellular and animal models, the mechanisms underlying the biological role of mHTT and its toxicity to striatal neurons have not yet been established and no effective therapy for HD patients has been developed so far. We produced and characterized a new line of dermal fibroblasts (HDDF, Huntington’s disease dermal fibroblasts) from a patient with a confirmed HD diagnosis. We also studied the growth characteristics of HDDF cells, stained them for canonical markers, karyotyped these cells, and investigated their phenotype. HDDF cells was successfully reprogrammed into induced striatal neurons via transdifferentiation. The new fibroblast line can be used as a cell model to study the biological role of mHTT and manifestations of HD pathogenesis in both fibroblasts and induced neuronal cells obtained from them by reprogramming techniques.
期刊介绍:
Biochemistry (Moscow) is the journal that includes research papers in all fields of biochemistry as well as biochemical aspects of molecular biology, bioorganic chemistry, microbiology, immunology, physiology, and biomedical sciences. Coverage also extends to new experimental methods in biochemistry, theoretical contributions of biochemical importance, reviews of contemporary biochemical topics, and mini-reviews (News in Biochemistry).