MELAS, MIDD and Beyond: m.3243A>G MT-TL1 Mutation in Adult Patients  

作　　者：Bun Sheng Man Kei Fong Wing Kwan Ng Sammy Pak Lam Chen Chloe Miu Mak Bun Sheng;Man Kei Fong;Wing Kwan Ng;Sammy Pak Lam Chen;Chloe Miu Mak(Department of Medicine & Geriatrics, Princess Margaret Hospital, Hong Kong, China;Department of Pathology, Princess Margaret Hospital, Hong Kong, China)

机构地区：[1]Department of Medicine & Geriatrics, Princess Margaret Hospital, Hong Kong, China [2]Department of Pathology, Princess Margaret Hospital, Hong Kong, China

出　　处：《International Journal of Clinical Medicine》2016年第7期487-495,共9页临床医学国际期刊（英文）

摘　　要：m.3243A>G MT-TL1 mutation is the most common mitochondrial DNA mutation that results in a wide spectrum of disorders in a maternally inherited pedigree. In adult patients, many present with symptoms and signs indistinguishable from acquired diseases and the correct diagnosis is often delayed after many years. Nevertheless, clues suggesting m.3243A>G usually exist early in the disease course but are only realized late. These hints, from the evolution of symptoms and signs, family background, investigation results, or a combination of these, enable the physician to make the correct diagnosis early, which is important for appropriate treatment and better patient care. As with other inheritable diseases, genetic counselling should be offered regarding the disease management, inheritance mode, recurrence risk, usefulness and limitations of genetic testing and reproductive options.m.3243A>G MT-TL1 mutation is the most common mitochondrial DNA mutation that results in a wide spectrum of disorders in a maternally inherited pedigree. In adult patients, many present with symptoms and signs indistinguishable from acquired diseases and the correct diagnosis is often delayed after many years. Nevertheless, clues suggesting m.3243A>G usually exist early in the disease course but are only realized late. These hints, from the evolution of symptoms and signs, family background, investigation results, or a combination of these, enable the physician to make the correct diagnosis early, which is important for appropriate treatment and better patient care. As with other inheritable diseases, genetic counselling should be offered regarding the disease management, inheritance mode, recurrence risk, usefulness and limitations of genetic testing and reproductive options.

关 键 词：Mitochondrial Disease MELAS m.3243A>G 

分 类 号：R73[医药卫生—肿瘤]