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首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation
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MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation

机译：MELAS：MTTL1 A3243G MELAS突变的多代影响

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Background: The maternally inherited MTTLI A3243G mutation in the mitochondrial genome causes MELAS (Mitochondrial Encephalopathy Lactic Acidosis with Stroke-like Episodes), a condition that is multisystemic but affects primarily the nervous system. Significant intra-familial variation in phenotype and severity of disease is well recognized. Methods: Retrospective and ongoing study of an extended family carrying the MTTLI A3243G mutation with multiple symptomatic individuals. Tissue heteroplasmy is reviewed based on the clinical presentations, imaging studies, laboratory findings in affected individuals and pathological material obtained at autopsy in two of the family members. Results: There were seven affected individuals out of thirteen members in this three generation family who each carried the MTTLI A3243G mutation. The clinical presentations were varied with symptoms ranging from hearing loss, migraines, dementia, seizures, diabetes, visual manifestations, and stroke like episodes. Three of the family members are deceased from MELAS or to complications related to MELAS. Conclusions: The results of the clinical, pathological and radiological findings in this family provide strong support to the current concepts of maternal inheritance, tissue heteroplasmy and molecular pathogenesis in MELAS. Neurologists (both adult and paediatric) are the most likely to encounter patients with MELAS in their practice. Genetic counselling is complex in view of maternal inheritance and heteroplasmy. Newer therapeutic options such as arginine are being used for acute and preventative management of stroke like episodes.
机译：背景：线粒体基因组中母亲遗传的MTTLI A3243G突变会引起MELAS（线粒体脑病乳酸中毒，伴有中风样发作），这种疾病是多系统性的，但主要影响神经系统。表型和疾病严重程度的重大家族内差异是众所周知的。方法：回顾性研究和正在进行的研究，该研究涉及带有多个有症状个体的携带MTTLI A3243G突变的大家庭。根据临床表现，影像学研究，受影响个体的实验室检查结果以及两个家庭成员的尸体解剖获得的病理材料，对组织异质性进行了审查。结果：在这个三代家庭的十三个成员中有七个受影响的个体，每个个体都携带MTTLI A3243G突变。临床表现多样，症状包括听力下降，偏头痛，痴呆，癫痫，糖尿病，视觉表现和中风样发作。三个家庭成员死于MELAS或与MELAS相关的并发症。结论：该家族的临床，病理和放射学发现的结果为目前MELAS的母亲遗传，组织异质性和分子发病机理提供了有力的支持。神经科医生（成人和儿科医师）在实践中最容易遇到MELAS患者。鉴于母亲的遗传和异质性，遗传咨询非常复杂。诸如精氨酸等较新的治疗选择已用于中风样发作的急性和预防性治疗。

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