A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.
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.
Da Pozzo
Paola
P
Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy.
Cardaioli
Elena
E
Malfatti
Edoardo
E
Gallus
Gian Nicola
GN
Malandrini
Alessandro
A
Gaudiano
Carmen
C
Berti
Gianna
G
Invernizzi
Federica
F
Zeviani
Massimo
M
Federico
Antonio
A
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*
D012361:RNA, Transfer, Pro; D042967:Electron Transport Complex I