Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.

Abstract

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.

• Authors: F M Santorelli, G Siciliano, C Casali, M G Basirico, R Carrozzo, F Calvosa, F Sartucci, L Bonfiglio, L Murri, S DiMauro
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 7 Issue 3 Pg. 156-9 (May 1997) ISSN: 0960-8966 [Print] England
• PMID: 9185178 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• RNA, Transfer, Cys

Topics

• Adult
• Blotting, Southern
• Family Health
• Female
• Humans
• Italy
• Male
• Mitochondria (genetics)
• Mitochondrial Encephalomyopathies (genetics)
• Pedigree
• Point Mutation
• Polymorphism, Restriction Fragment Length
• RNA, Transfer, Cys (genetics)