粒線體DNA4977bp缺失與第二型糖尿病關係之研究

現代人的文明病—糖尿病，患病人口逐年增加，且有越來越年輕化的趨勢。第二型糖尿病是目前已知最常見的代謝疾病，因此，加強糖尿病致病機制的研究，尋找出更佳的治療方式，應是目前極重要的課題。目前全球研究人員致力於與第二型糖尿病有關之單一或多重基因的多型性突變研究。粒線體 DNA變異已經被證實與第二型糖尿病在內的許多疾病有關，為了探索不同的粒線體 DNA變異，在過去已有多個單一基因多型性突變的分子機轉被定義出來，但仍有還隱藏著主要基因未被發現。為探討粒線體 DNA變異在國人第二型糖尿病族群中所扮演的角色，我們利用週邊血液白血球粒線體 DNA為實驗檢體，並與醫院內病歷對照分析的方式對其中100名(男性46位，女性54位)受試者進行粒線體 DNA 4977bp變異之PCR定性試驗，試圖釐清粒線體 DNA 4977bp變異與第二型糖尿病的相關性。研究中並未發現粒線體 DNA 4977bp變異相關之證據。第二型糖尿病病患之週邊血液白血球粒線體 DNA 4977bp變異的機制未明，仍有待進ㄧ步釐清其與氧化性傷害的關係。

Diabetes is a chronic metabolic disease with increasing incidence and trendy prevalence in the younger age. It is therefore becoming more critical to find the underlying mechanisms and the best treatments. Globally, a common way of finding the solution to diabetes has been the analysis of single or multiple gene trait polymorphisms. Mitochondrial DNA (mtDNA) mutations have been proven to associate with many diseases including diabetes. Although many mtDNA mutations have been known to relate to diabetes, it is believed that many others remain unidentified. To further understand the relationship between mtDNA mutations and diabetes, we performed PCR analyses for a 4977-bp mtDNA mutation in 100 cases of type 2 diabetes (46 males and 54 females). The results showed no correlation between type 2 diabetes occurrence and mtDNA 4977-bp mutation; nor between type 2 diabetes-associated prognosis and such mutation. Our result indicated that oxidative stress damages commonly found in type 2 diabetes patients seemed not related to mtDNA 4977-bp mutation in peripheral leukocytes.