A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Article Details

Citation

Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Am J Hum Genet. 1990 Mar;46(3):428-33.

PubMed ID
2137962 [ View in PubMed
]
Abstract

A variable combination of developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy occurred in four members of a family and was maternally transmitted. There was no histochemical evidence of mitochondrial myopathy. Blood and muscle from the patients contained two populations of mitochondrial DNA, one of which had a previously unreported restriction site for AvaI. Sequence analysis showed that this was due to a point mutation at nucleotide 8993, resulting in an amino acid change from a highly conserved leucine to arginine in subunit 6 of mitochondrial H(+)-ATPase. There was some correlation between clinical severity and the amount of mutant mitochondrial DNA in the patients; this was present in only small quantities in the blood of healthy elderly relatives in the same maternal line.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
ATP synthase subunit aP00846Details