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NDUFA1 p.Gly32Arg variant in early-onset dementia

21 Jan 2022

Abstract excerpt

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...

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PMID: 35131137
DOI: 10.1016/j.neurobiolaging.2021.09.026

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