利氏综合征中线粒体DNA第8993位核苷酸处T→C和T→G突变的表型差异

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

作者信息

Fujii T, Hattori H, Higuchi Y, Tsuji M, Mitsuyoshi I

机构信息

Department of Pediatrics, Shiga Medical Center for Children, Moriyama-City, Japan.

出版信息

Pediatr Neurol. 1998 Mar;18(3):275-7. doi: 10.1016/s0887-8994(97)00187-2.

DOI:10.1016/s0887-8994(97)00187-2

PMID:9568930

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.

摘要

本研究报告了一名患有 Leigh 综合征的患者，其线粒体脱氧核糖核酸（mtDNA）第 8993 位核苷酸发生了 T 到 C 的突变（T8993C）。作者回顾了包括我们的病例在内的 10 例患有 T8993C 的 Leigh 综合征患者。与 18 例报道的由第 8993 位核苷酸 T 到 G 突变（T8993G）引起的 Leigh 综合征患者相比，T8993C 型 Leigh 综合征的特征是共济失调的发生率显著更高（P < 0.01）。在回顾的与 T8993C 相关的 Leigh 综合征患者中，没有一例患有色素性视网膜炎，而色素性视网膜炎是 T8993G 型 Leigh 综合征的特征性表现之一。T8993C 型 Leigh 综合征症状较轻可由较轻的复合体 V 功能障碍来解释；然而，T8993C 型 Leigh 综合征共济失调发生率较高这一现象还需要更多研究。