Novel A14841G mutation is associated with high penetrance of LHON/C4171A family.
Novel A14841G mutation is associated with high penetrance of LHON/C4171A family.
复制标题
新的 A14841G 突变与 LHON/C4171A 家族的高外显率相关。
DOI：
10.1016/j.bbrc.2009.06.102
复制
发表时间：
2009
影响因子：
3.1
通讯作者：
Xu Ma
中科院分区：
文献类型：
--
作者：
Juhua Yang;Yihua Zhu;Lu Chen;Hongxing Zhang;Y. Tong;Dinggou Huang;Zhiqiang Zhang;Shi Chen;Xiaoli Han;Xu Ma
我们报告了一个携带ND 1/C4171 A突变的中国LHON家系的临床和遗传特征。该家系的视力损害发生率高，视力恢复频率极低，这与先前报道的具有相同突变的韩国LHON家系的结果形成鲜明对比。在部分定义的东亚单倍群N9 a1中的完整mtDNA的序列分析揭示了29个其他变体的存在。一种新的异质性A14841 G突变，其中一种在细胞色素B（CytB）的氨基酸32处高度保守的天冬酰胺被丝氨酸取代的变体，可能与C4171 A突变起协同作用，导致这些家族中LHON的显著不同的临床表现。该研究进一步证实C4171 A是一种罕见的原发性LHON突变，mtDNA背景也可能有助于LHON/C4171 A突变的临床表现。
We report the clinical and genetic characterization of a Chinese LHON family carrying an ND1/C4171A mutation. This family has high penetrance of visual impairment and extremely low frequency of vision recovery, which is in marked contrast to previously reported results for Korean LHON families with the same mutation. Sequence analysis of the complete mtDNA in the partially defined East Asian haplogroup N9a1 revealed the presence of 29 other variants. A novel heteroplasmic A14841G mutation, one of the variants with a serine substituted for a highly conserved asparagine at amino acid 32 of Cytochrome b (Cytb), may play a synergistic role with the C4171A mutation, leading to significantly different clinical manifestations of LHON among these families. The study further confirmed that C4171A was a rare primary LHON mutation, and the mtDNA background could also contribute to the clinical manifestation of the LHON/C4171A mutation.
人类线粒体疾病：回答问题和质疑答案。
DOI：
10.1016/s0074-7696(08)61051-7
发表时间：
1999
期刊：
International review of cytology
影响因子：
--
作者：
Howell,N
通讯作者：
Howell,N
影响因子：
14.9
作者：
Rieder, MJ;Taylor, SL;Nickerson, DA
通讯作者：
Nickerson, DA
影响因子：
56.9
作者：
WALLACE, DC;SINGH, G;NIKOSKELAINEN, EK
通讯作者：
NIKOSKELAINEN, EK