Gene under study
Gene NDUFV1 (OMIM *161015, OMIM Phenotype # 18225)
Abstract
Biallelic NDUFV1 variants have hitherto been related to human disease in approximately 60 reported cases. NDUFV1 encodes a 51 kDa subunit of the mitochondrial complex I (NADH:ubiquinone oxidoreductase), a large multiprotein with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites.
Complex I defects are a common cause of mitochondrial diseases, occurring in approximately 1/10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson’s disease and Leigh syndrome.
We have identified several new pedigrees with recurrent variants in NDUFV1. Our goal is to conduct a comprehensive phenotypic analysis, define the natural history of this disorder and perform haplotype analysis of recurrent variants in a large international cohort.
Coordinating clinician
Dr Francesca Magrinelli – f.magrinelli@ucl.ac.uk
Institution
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes (not mandatory)
2- Resampling of patients: No
3- Linked to a translational/basic research project: No