Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.
We report an Italian family with maternally inherited encephalomyopathy including progressive external ophthalmoplegia, seizures, and neurophysiological evidence of brainstem dysfunction. Mitochondrial DNA analysis showed a heteroplasmic point mutation at position 5814 in the tRNA gene for cysteine (A5814G), previously reported in a 5-year-old girl of Portuguese origin. The mutation was very abundant (> 95%) in both muscle and blood from the proposita and was present in lower proportions (average 85 +/- 6%) in blood from three less severely affected maternal relatives. This observation confirms pathogenicity for the A5814G mutation.
Santorelli
F M
FM
Department of Neurology, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University, New York, NY 10032, USA.
Siciliano
G
G
Casali
C
C
Basirico
M G
MG
Carrozzo
R
R
Calvosa
F
F
Sartucci
F
F
Bonfiglio
L
L
Murri
L
L
DiMauro
S
S
D000328:Adult; D015139:Blotting, Southern; D005192:Family Health; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D012350:RNA, Transfer, Cys / Q000235:genetics*
D012350:RNA, Transfer, Cys