title: A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness.
abstract: We have identified a heteroplasmic G to A mutation at position 12,183 of the mitochondrial transfer RNA Histidine (tRNA(His)) gene in three related patients. These phenotypes varied according to mutation heteroplasmy: one had severe pigmentary retinopathy, neurosensorial deafness, testicular dysfunction, muscle hypotrophy, and ataxia; the other two had only retinal and inner ear involvement. The mutation is in a highly conserved region of the T(psi)C stem of the tRNA(His) gene and may alter secondary structure formation. This is the first described pathogenic, maternally inherited mutation of the mitochondrial tRNA(His) gene.
authors.affiliation: Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, I.R.C.C.S. Ospedale Maggiore Policlinico and Centro di Eccellenza per le Malattie Neurodegenerative, Italy. neurogene@policlinico.mi.it
authors.forename: M
authors.initials: M
authors.lastname: Crimi
authors.forename: S
authors.initials: S
authors.lastname: Galbiati
authors.forename: M P
authors.initials: MP
authors.lastname: Perini
authors.forename: A
authors.initials: A
authors.lastname: Bordoni
authors.forename: G
authors.initials: G
authors.lastname: Malferrari
authors.forename: M
authors.initials: M
authors.lastname: Sciacco
authors.forename: I
authors.initials: I
authors.lastname: Biunno
authors.forename: S
authors.initials: S
authors.lastname: Strazzer
authors.forename: M
authors.initials: M
authors.lastname: Moggio
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
authors.forename: G P
authors.initials: GP
authors.lastname: Comi
mesh_terms: D000328:Adult; D001259:Ataxia / Q000150:complications / Q000235:genetics; D001483:Base Sequence; D002386:Cataract / Q000150:complications / Q000235:genetics; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics*; D008969:Molecular Sequence Data; D018656:Muscle Fibers, Fast-Twitch / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics; D009154:Mutation; D009690:Nucleic Acid Conformation; D010641:Phenotype; D012354:RNA, Transfer, His / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics*; D035781:Siblings; D013733:Testicular Diseases / Q000150:complications / Q000235:genetics
chemical_list: D012354:RNA, Transfer, His