This website provides information on patients with pathogenic variants in the NDUFAF8 gene, including clinical features, molecular data, management advice and research options.

Recessive pathogenic variants in the NDUFAF8 gene cause mitochondrial disease – only a small number of patients have been reported, but each presented in childhood with a Leigh syndrome clinical presentation. Given that NDUFAF8 encodes an assembly factor, gene defects have been demonstrated to cause a marked isolated complex I deficiency in muscle and fibroblasts.

Not all individuals with pathogenic variants in the NDUFAF8 gene have these features.

This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with pathogenic variants in the NDUFAF8 gene.

Charlotte L Alston, PhD, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK, charlotte.alston@ncl.ac.uk

David J. Pagliarini, PhD, Washington University School of Medicine in St. Louis, St Louis, WA, USA, pagliarini@wustl.edu

Robert McFarland, MD, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK, robert.mcfarland@ncl.ac.uk

Robert Taylor, PhD, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK, robert.taylor@ncl.ac.uk