MT-ND1

MT-ND1 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1) is a Protein Coding gene. Diseases associated with MT-ND1 include Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes and Leber Hereditary Optic Neuropathy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

Full Name

MITOCHONDRIALLY ENCODED NADH:UBIQUINONE OXIDOREDUCTASE CORE SUBUNIT 1

Function

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:1959619).

Essential for the catalytic activity and assembly of complex I (PubMed:26929434, PubMed:1959619).

Biological Process

Aerobic respiration Source: GO_Central
Mitochondrial ATP synthesis coupled proton transport Source: ComplexPortal
Mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
Mitochondrial respiratory chain complex I assembly Source: UniProtKB

Cellular Location

Mitochondrion inner membrane

Involvement in disease

Leber hereditary optic neuropathy (LHON):
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS):
Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness.
Alzheimer disease mitochondrial (AD-MT):
Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.
Diabetes mellitus, non-insulin-dependent (NIDDM):
A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.