中国临床康复2005，Vol.9Issue(1)：230-232,3.
一种新的线粒体DNA基因突变:线粒体脑肌病伴高乳酸血症和卒中样发作综合征1例基因与残障特征分析
Gene and disabled characteristics of a case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes due to a novel mitochondrial DNA mutation
常高峰 1苏净 1曹霞 1曹秉振1
作者信息
- 1. 解放军济南军区总医院神经内科,山东省,济南市,250031
- 折叠
摘要
Abstract
BACKGROUND: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes(MELAS) is a common clinical manifestation of mitochondrial encephalomyopathy resulted from various mitochondrial DNA mutations.OBJECTIVE: To investigate the relationship between the clinical manifestations of a patient with MELAS and a novel mitochondrial DNA mutation.DESIGN: A case-controlled genetic and pathological analysis.SETTING and PARTICIPANTS: This study was carried out in the Department of Neurology, Neuropathological and Neuromolecular Laboratory of the General Hospital of Jinan Command. A boy 13 years of age was admitted for paroxysmal headache, vomiting and convulsion for one month, who developed blindness and mental deterioration after hospitalization with elevated blood lactic acid and pyruvate levels. A clinical diagnosis of MELAS was made.INTERVENTIONS: Cranial magnetic resonance imaging(MRI), brain biopsy and mitochondrial DNA analysis.MAIN OUTCOME MEASURES: The patient' s clinical manifestations,MRI findings, cerebral histopathological changes and mitochondrial DNA mutation.RESULTS: The common MELAS mutations were not found in this case, but a 276-bp deletion was detected in the mitochondrial DNA between 3 314 bp and 3 589 bp.CONCLUSION: The 276-bp deletion in the mitochondrial DNA between3 314 and 3 589 bp might be a new MELAS-causing mtDNA mutation, which is responsible for blindness, epilepsy and dementia in the present case.关键词
MELAS综合征/DNA,线粒体/突变/基因分类
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常高峰,苏净,曹霞,曹秉振..一种新的线粒体DNA基因突变:线粒体脑肌病伴高乳酸血症和卒中样发作综合征1例基因与残障特征分析[J].中国临床康复,2005,9(1):230-232,3.
