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Neurogenetics Section, the Department of Clinical
Neurology, Institute of Neurology, Queen Square, London, UK
Correspondence to: Dr MG Hanna, Neurogenetics Section, Institute of Neurology, Queen Square, London WCIN 3BG, UK. Telephone 0044 171 837 3611; fax 0044 171 278 5616; email mhanna{at}ion.ucl.ac.uk
Received 4 November 1997 and in revised form 17 March 1998;
Accepted 19 March 1998
OBJECTIVES
To define the molecular genetic basis
of the MELAS phenotype in five patients without any known mutation of
mitochondrial DNA.
METHODSSystematic automated mitochondrial DNA
sequencing of all mitochondrial transfer RNA and cytochrome c oxidase
genes was undertaken in five patients who had the MELAS phenotype.
RESULTS A novel heteroplasmic mitochondrial DNA
mutation was identified in the transfer RNA gene for phenylalanine in
one case (patient 3). This mutation was not detected in the patient's
blood or in her mother's blood. No pathogenic mutations were
identified in the other four patients.
CONCLUSIONSThis is the first point mutation in
the transfer RNA gene for phenylalanine to be associated with MELAS.
The absence of mutations in the remaining four patients suggests that
there is further genetic heterogeneity associated with this
mitochondrial phenotype.
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