一个新的线粒体 tRNA(Trp)基因突变导致晚发性脑肌病，还有其他一些特征。
A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features.
机构信息
Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy.
出版信息
J Neurol Sci. 2010 Oct 15;297(1-2):105-8. doi: 10.1016/j.jns.2010.06.009. Epub 2010 Aug 13.
BACKGROUND
Mitochondrial diseases due to mitochondrial tRNA genes mutations are usually multisystem disorders with infantile or adult onset.
OBJECTIVE
To identify the molecular defect underlying a mitochondrial encephalomyopathy.
METHODS/PATIENTS: Case report of a 51year-old woman presenting with late-onset myoclonic epilepsy plus additional features. Proband's mother presented hypothyroidism and diabetes.
RESULTS
Muscle biopsy showed mitochondrial changes. Respiratory chain activities were reduced. The novel G5538A mutation was identified in different tissues DNAs from the proband and from her mother.
CONCLUSION
We were able to identify a novel mtDNA tRNA((Trp)) gene pathogenic mutation.
背景
由于线粒体 tRNA 基因突变导致的线粒体疾病通常是具有婴儿期或成年期发病的多系统疾病。
目的
鉴定线粒体脑肌病的分子缺陷。
方法/患者：一名 51 岁女性的病例报告，表现为迟发性肌阵挛性癫痫伴额外特征。先证者的母亲患有甲状腺功能减退症和糖尿病。
结果
肌肉活检显示线粒体改变。呼吸链活性降低。在先证者及其母亲的不同组织 DNA 中发现了新的 G5538A 突变。
结论
我们能够鉴定出一种新型 mtDNA tRNA(（Trp）基因致病性突变。
Zotero 插件