مورد إلكتروني
NDUFA1 p.Gly32Arg variant in early-onset dementia
| العنوان: | NDUFA1 p.Gly32Arg variant in early-onset dementia |
|---|---|
| المؤلفون: | Huttula, S. (Samuli), Väyrynen, H. (Henri), Helisalmi, S. (Seppo), Kytövuori, L. (Laura), Luukkainen, L. (Laura), Hiltunen, M. (Mikko), Remes, A. M. (Anne M.), Krüger, J. (Johanna) |
| بيانات النشر: | Elsevier 2022 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Early-onset dementia (EOD) is highly heritable. However, in many EOD cases the genetic etiology remains unknown. Mitochondrial dysfunction is associated with neurodegeneration and the complex I (CI) deficiency is the most common enzyme deficiency in diseases related to oxidative phosphorylation. The X-chromosomal NDUFA1 gene is essential for the activity of CI. Mutations in NDUFA1 are associated with mitochondrial diseases especially with Leigh syndrome. CI deficiency is also associated with neurodegenerative diseases, such as Alzheimer’s disease (AD). The aim of this study was to evaluate the role of NDUFA1 variants in EOD patients. Next-generation sequencing panel was used to screen NDUFA1 variants in a cohort of 37 EOD patients with a family history of dementia or an atypical or rapidly progressive course of disease. We identified a hemizygous p.Gly32Arg variant in two brothers with AD. Subsequent screening of the variant in a larger cohort of EOD patients (n = 279) revealed three additional variant carriers (one male and two heterozygote females), suggesting that NDUFA1 variant p.Gly32Arg may play a role in neurodegenerative dementia. |
| مصطلحات الفهرس: | Alzheimer's disease, Dementia, Mitochondria, NDUFA1, Neurodegeneration, OXPHOS, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion |
| URL: | info:eu-repo/semantics/altIdentifier/doi/10.1016/j.neurobiolaging.2021.09.026 |
| الإتاحة: | Open access content. Open access content info:eu-repo/semantics/openAccess © 2022 The Author(s). This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/) https://creativecommons.org/licenses/by/4.0 |
| ملاحظة: | application/pdf English |
| أرقام أخرى: | OUX oai:oulu.fi:nbnfi-fe2022101161573 urn:nbn:fi-fe2022101161573 1350338853 |
| المصدر المساهم: | UNIV OF OULU From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.on1350338853 |
| قاعدة البيانات: | OAIster |
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