MT ND1

About MT ND1

MT ND1 is a gene in mitochondrial DNA encoding NADH dehydrogenase subunit 1, one of the core subunits of respiratory complex I, which transfers electrons from NADH to ubiquinone and pumps protons across the inner mitochondrial membrane. Because mitochondrial DNA is inherited from the mother, MT ND1 disorders follow maternal inheritance, and cells can contain a mixture of normal and mutant mitochondrial DNA, a state called heteroplasmy. The m.3460G to A variant is one of three primary variants, along with m.11778G to A in MT ND4 and m.14484T to C in MT ND6, that together account for about 90 percent of cases of Leber hereditary optic neuropathy. This disorder causes acute or subacute painless loss of central vision, typically in one eye followed weeks to months later by the other, most often in young adult men. Penetrance is incomplete and much higher in males than in females, with nuclear genetic factors, hormones, smoking, and alcohol thought to influence whether carriers lose vision. The m.11778 variant is the most common and has the lowest chance of spontaneous recovery, while m.14484 has the best. The condition is named after the German ophthalmologist Theodor Leber, and in 1988 it became the first disease linked to a point mutation in mitochondrial DNA. Idebenone is approved in Europe for the condition, and gene therapy has been investigated.