Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome.

Abstract

This study reports on a patient with Leigh syndrome with a T-to-C mutation at nucleotide 8993 of mitochondrial deoxyribonucleic acid (T8993C). The authors reviewed 10 Leigh syndrome patients, including ours, with T8993C. Compared with 18 reported patients with Leigh syndrome caused by a T-to-G mutation at nucleotide 8993 (T8993G), Leigh syndrome with T8993C was characterized by a significantly higher frequency of ataxia (P < 0.01). None of the reviewed T8993C-associated Leigh syndrome patients had retinitis pigmentosa, which is one of the characteristic findings in Leigh syndrome with T8993G. The milder symptoms of T8993C-Leigh syndrome can be explained by the milder complex V dysfunction; however, the higher frequency of ataxia in T8993C-Leigh syndrome requires more study.

• Authors: T Fujii, H Hattori, Y Higuchi, M Tsuji, I Mitsuyoshi
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 18 Issue 3 Pg. 275-7 (Mar 1998) ISSN: 0887-8994 [Print] United States
• PMID: 9568930 (Publication Type: Case Reports, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Mitochondrial
• Cytidine
• Guanine
• Thymidine

Topics

• Child, Preschool
• Cytidine
• DNA, Mitochondrial (genetics)
• Female
• Guanine
• Humans
• Leigh Disease (genetics)
• Phenotype
• Point Mutation
• Thymidine