Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.
We sequenced the mitochondrial genome from a patient with progressive mitochondrial myopathy associated with deafness, sporadic seizures, and histological and biochemical features of mitochondrial respiratory chain dysfunction. Direct sequencing showed a heteroplasmic mutation at nucleotide 12262 in the tRNASer(AGY) gene. RFLP analysis confirmed that 63% of muscle mtDNA harboured the mutation, while it was absent in all the other tissues. The mutation is predicted to influence the functional behaviour of the aminoacyl acceptor stem of the tRNA. Several point mutations on mitochondrial tRNA genes have been reported in patients affected by encephalomyopathies, but between them only four were reported for tRNASer(AGY).
Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy.
Elena
E
Cardaioli
Edoardo
E
Malfatti
Paola
P
Da Pozzo
Gian Nicola
GN
Gallus
Maria Alessandra
MA
Carluccio
Alessandra
A
Rufa
Nila
N
Volpi
Maria Teresa
MT
Dotti
Antonio
A
Federico
D001483:Base Sequence; D001921:Brain / Q000473:pathology; D004247:DNA / Q000235:genetics; D003638:Deafness / Q000235:genetics* / Q000473:pathology; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000473:pathology; D008967:Molecular Biology; D008969:Molecular Sequence Data; D009154:Mutation / Q000502:physiology*; D012150:Polymorphism, Restriction Fragment Length; D012362:RNA, Transfer, Ser / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012640:Seizures / Q000235:genetics* / Q000473:pathology
D012362:RNA, Transfer, Ser; D004247:DNA