title: A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.
abstract: We present a patient with ataxia, retinitis pigmentosa, dysarthria, neurosensorial deafness, nystagmus and leukoencephalopathy. A novel heteroplasmic G to A transition at nucleotide 15 975 was found, affecting the T arm of the mitochondrial (mt) tRNA(Pro) gene. A biochemical analysis of respiratory chain enzymes in muscle revealed isolated complex I deficiency. This is the fourth pathogenic tRNA(Pro) point mutation to be associated with an mt disorder. The result highlights the importance of molecular dissection of mtDNA in patients with defined mt disorder and confirms the clinical and biochemical heterogeneity associated with tRNA(Pro) mutations.
authors.affiliation: Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Da Pozzo
authors.forename: Elena
authors.initials: E
authors.lastname: Cardaioli
authors.forename: Edoardo
authors.initials: E
authors.lastname: Malfatti
authors.forename: Gian Nicola
authors.initials: GN
authors.lastname: Gallus
authors.forename: Alessandro
authors.initials: A
authors.lastname: Malandrini
authors.forename: Carmen
authors.initials: C
authors.lastname: Gaudiano
authors.forename: Gianna
authors.initials: G
authors.lastname: Berti
authors.forename: Federica
authors.initials: F
authors.lastname: Invernizzi
authors.forename: Massimo
authors.initials: M
authors.lastname: Zeviani
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D017668:Age of Onset; D001259:Ataxia / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D001483:Base Sequence; D001927:Brain Diseases / Q000150:complications / Q000235:genetics*; D003638:Deafness / Q000150:complications / Q000235:genetics*; D042967:Electron Transport Complex I / Q000172:deficiency / Q000235:genetics*; D005260:Female; D050259:Genes, Mitochondrial; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009690:Nucleic Acid Conformation; D020417:Nystagmus, Congenital / Q000150:complications / Q000235:genetics; D010375:Pedigree; D012361:RNA, Transfer, Pro / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics*
chemical_list: D012361:RNA, Transfer, Pro; D042967:Electron Transport Complex I