查詢結果分析
來源資料
相關文獻
- Molecular Epidemiologic Study of Mitochondrial DNA Mutations in patients with Mitochondrial Diseases in Taiwan
- 從粒線體DNA看粒線體疾病
- Clinical and Molecular Aspects of Diseases of Mitochondrial DNA Instability
- 粒線體疾病與粒線體DNA缺乏症候群
- Phylogeographic Structure of the Formosan Wood Mouse, Apodemus semotus Thomas
- Mitochondrial Theory of Aging Matures--Roles of mtDNA Mutation and Oxidative Stress in Human Aging
- 臺灣族群的粒線體DNA非編碼區之核苷酸變異
- 臺北市立動物園長臂猿種緣關係之基因分析
- 臺灣黑熊(Selenarctos thibetanus formosanus)的DNA鑑定初探
- 利用短縱列重複序列進行親子與手足關係的鑑定
頁籤選單縮合
題名 | 從粒線體DNA看粒線體疾病:Knowing Mitochondrial Diseases Throught Mitochondrial DNA |
---|---|
作者 | 麥淑珍; 遲景上; Mak, Suk-chun; Chi, Ching-shiang; |
期刊 | 中華民國小兒科醫學會雜誌 |
出版日期 | 19981100 |
卷期 | 39:增刊B 民87.11 |
頁次 | 頁24-29 |
分類號 | 415.82 |
語文 | chi |
關鍵詞 | 粒線體DNA; 粒線體疾病; |
英文摘要 | Mitochondrial diseases are a group of he-terogenous disorder. Mitochondrion has its own DNA which is a double-strand circular DNA with a size of 16569 base pairs. The mitochondrial genome is so unique in the way that they have their own genetic code which is different from the nuclear code and it can only be transmitted through maternal inheritance. The mitochondrial DNA (mtDNA) contains 37 genes: 13 polypeptide-coding genes (mRNAs), 22 transfer RNA genes (tRNAs) and 2 ribosomal RNA genes (rRNAs). All the 13 mRNAs belonged to subunits of the respiratory chain/oxidative phosphorylation system. Mitochondrial disorder can be caused by errors arising from the nuclear genome (Medalian inheritance) or the mitochondrial genome (maternal inheritance). It is now well known that mutations, deletion and depletion of mtDNA is associated with many mitochondrial diseases. For example, point mutation in mtDNA may cause mitochondrial diseases. For example, point mulation in mtDNA may cause mitochondrial encephalopathy with lactic acidosis and stroke (MELAS); myoclonus epilepsy with ragged-red fibers (MERRF); neuro-pathy, ataxia with retinitis pigmentosa (NARP); Leigh syndrome; Leber's hereditary optic neuropathy (LHON); progressive external ophthalmoplegia with ragged-red fibers (PEO with RRh); maternally inherited cardiomyopathy; maternally inherited diabetes mellitus and hearing loss; familial bilateral striatai necrosis; and probably Rett syndorme. Large scale mtDNA deletion is associated with Pearson syndrome; Keams-Sayre syndrome (KSS); sporadic PEO with RRF; diabetes mellitus with hearing loss. Decrease in the amount of mtDNA per cell can cause mtDNA depletion syndrome. More and more novel mutations and varied phenotype expressions had been reported recently. A better understanding of the mitochondrial diseases on the basis of mtDNA may help to make confirm diagnosis and prenatal screening in hopes of preventing these diseases. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。