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題 名 | Maternally Inherited Diabetes and Deafness (MIDD) Syndrome: A Clinical and Molecular Genetic Study of a Taiwanese Family=母系遺傳糖尿病及失聰症候群:一個臺灣家族的臨床及分子生物學研究 |
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作 者 | 陳勇年; 劉嘉為; 黃錦章; 林祖功; 魏耀揮; | 書刊名 | 長庚醫學 |
卷 期 | 27:1 2004.01[民93.01] |
頁 次 | 頁66-73 |
分類號 | 415.668 |
關鍵詞 | 糖尿病; 失聰; 家族研究; 粒線體DNA; A3243G突變; Diabetes mellitus; Deafness; Mitochondrial DNA; A3243G mutation; Family survey; |
語 文 | 英文(English) |
中文摘要 | 我們對一位48歲的女性母系遺傳糖尿病及失聰症候群(MIDD)之病人,及其4名子女進行臨床評估以及基因分析,以研究和MIDD有關之糖線體突變與臨床症狀間的關係。臨床上的評估包含是否有癲癇、偏頭病、身材矮小、智能不足、或是類似中風發生等症狀,並進行血糖耐受性測驗、肝糖激素刺激試驗、聽力及腦幹誘發電位等檢查。分子生物學方面則從肌肉、白血球及毛囊取樣分析A2343G及T3271G粒線體DNA的點突變。結果顯示包括病人及其4位子女均有粒線體DNA A3243G基因點突變,然4位子女並無糖線體疾病相關症狀。從這個臺灣MIDD家族的分析中可知,突變之出現及量的多寡與症狀的出現與否無相關性。 |
英文摘要 | We report on a case of a 48-year-old woman presenting with maternally inherited diabetes mellitus and deafness (MIDD) syndrome. Molecular genetic analysis and clinical evaluation were conducted in the patient and her 4 children to investigate the interrelation between an MIDD-associated mitochondrial DNA (mtDNA) mutation and clinical manifestations. Various symptoms and markers of MIDD, including seizures, migraines, short stature, mental retardation, and stroke-like episodes, were reviewed. Diabetes mellitus (DM) was studies by oral glucose tolerance and glucagon stimulation tests. Hearing impairment was determined by standard hearing tests and a brainstem auditory evoked potential test. The A3243G and T3271C transitional mutations of mtDNA were investigated form muscle and/or leukocytes and hair follicles. Mitochondrial-related symptoms were not found in the children, although they all harbored a heteroplasmic A3243G transition of mtDNA, as detected in screened samples. For the patient, the proportion of mutant mtDNA was highest in muscle cells followed by hair follicles and then leukocytes. Moreover, the proportion of mutant mtDNA was also higher in hair follicles than in leukocytes for asympotomatic family members. This Taiwanese MIDD family was found to have the A3243G point mutation as revealed from molecular genetic studies of leukocytes, hair follicles, and muscle tissue. However, no correlation was found between the proportion of mutant mtDNA and clinical features of any family member. |
本系統中英文摘要資訊取自各篇刊載內容。