title: Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.
abstract: Thirty-six of 43 maternally related members of a large African American family experienced hearing loss. A muscle biopsy specimen from the proband showed cytochrome c oxidase (COX)-deficient fibers but no ragged-red fibers; biochemical analysis showed marked reduction of COX activity. A novel T7511C point mutation in the tRNA(Ser(UCN)) gene was present in almost homoplasmic levels (>95%) in the blood of 18 of 20 family members, and was also found in lower abundance in the other two. Single-fiber PCR showed that the mutational load was greater in COX-deficient muscle fibers. The tRNA(ser(UCN)) gene may be a "hot spot" for mutations associated with maternally transmitted hearing loss.
authors.affiliation: Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: C M
authors.initials: CM
authors.lastname: Sue
authors.forename: K
authors.initials: K
authors.lastname: Tanji
authors.forename: G
authors.initials: G
authors.lastname: Hadjigeorgiou
authors.forename: A L
authors.initials: AL
authors.lastname: Andreu
authors.forename: I
authors.initials: I
authors.lastname: Nishino
authors.forename: S
authors.initials: S
authors.lastname: Krishna
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: M
authors.initials: M
authors.lastname: Hirano
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: E
authors.initials: E
authors.lastname: Bonilla
authors.forename: N
authors.initials: N
authors.lastname: Fischel-Ghodsian
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: R
authors.initials: R
authors.lastname: Friedman
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D009035:Mothers; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012362:RNA, Transfer, Ser / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012362:RNA, Transfer, Ser