| Disease Associations |
Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO:0000269PubMed:1417830, ECO:0000269PubMed:1674640, ECO:0000269PubMed:1900003, ECO:0000269PubMed:1928099, ECO:0000269PubMed:2018041}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]: Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. {ECO:0000269PubMed:8723687}. Note=The disease is caused by mutations affecting the gene represented in this entry.Alzheimer disease mitochondrial (AD-MT) [MIM:502500]: 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 constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.Note=Genetic variation in MT-ND1 might contribute ot the pathogenesis of non-insulin-dependent diabetes mellitus (NIDDM).
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Version 5.4
