University of Oulu

Huttula, S., Väyrynen, H., Helisalmi, S., Kytövuori, L., Luukkainen, L., Hiltunen, M., Remes, A. M., & Krüger, J. (2022). NDUFA1 p.Gly32Arg variant in early-onset dementia. Neurobiology of Aging, 114, 113–116.

NDUFA1 p.Gly32Arg variant in early-onset dementia

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Author: Huttula, Samuli1,2; Väyrynen, Henri1,2; Helisalmi, Seppo3;
Organizations: 1Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland
2MRC, Oulu University Hospital, Oulu, Finland
3Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland
4Cancer and Translational Medicine Research Unit, Pathology, University of Oulu, Oulu, Finland
5Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.3 MB)
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Language: English
Published: Elsevier, 2022
Publish Date: 2022-10-11


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.

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Series: Neurobiology of aging
ISSN: 0197-4580
ISSN-E: 1558-1497
ISSN-L: 0197-4580
Volume: 114
Pages: 113 - 116
DOI: 10.1016/j.neurobiolaging.2021.09.026
Type of Publication: A1 Journal article – refereed
Field of Science: 3112 Neurosciences
3124 Neurology and psychiatry
3111 Biomedicine
Funding: This study was supported by the Academy of Finland [grant numbers 315460 (AMR), 307866 (MH) and 325022 (SHe)]; The University of Oulu Scholarship Foundation (SHu, LL, AMR); Orion Research Foundation (SHu); Sigrid Jusélius Foundation (MH, LK); The Strategic Neuroscience Funding of the University of Eastern Finland (MH) and Medical Research Center Oulu (LK).
Academy of Finland Grant Number: 315460
Detailed Information: 315460 (Academy of Finland Funding decision)
Dataset Reference: Supplementary material associated with this article can be found, in the online version, at doi:10.1016/j.neurobiolaging.2021.09.026.
Copyright information: © 2022 The Author(s). This is an open access article under the CC BY license (