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題 名 | Molecular Epidemiologic Study of Mitochondrial DNA Mutations in patients with Mitochondrial Diseases in Taiwan=臺灣地區粒線體疾病患者粒線體DNA突變的分子流行病學研究 |
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作 者 | 馮清榮; 黃錦章; 顏美媛; 王明城; 高克培; 陳順勝; 魏耀揮; | 書刊名 | 臺灣醫學會雜誌 |
卷 期 | 98:5 1999.05[民88.05] |
頁 次 | 頁326-334 |
分類號 | 415.9 |
關鍵詞 | 臺灣地區; 粒線體疾病; 粒線體DNA突變; 分子流行病學; Mitochondrial DNA; Kearns-Sayre syndrome; Chronic progressive external ophthalmoplegia; Myoclonic epilepsy and raggedred fibers syndrome; Leber's hereditary optic neuropathy; Leigh syndrome; |
語 文 | 英文(English) |
英文摘要 | We report an 8-year molecular study of mitochondrial DNA (mtDNA) mutations in patients with mitochondrial diseases in Taiwan. One hundred and seventy-seven patients met the diagnostic criteria of mitochondrial disease and were recruited into the study. The results showed that 32 patients, including 25 with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, one with Kearns-Sayre syndrome (KSS), one with diabetes mellitus and deafness, and five with chronic progressive external ophthalmoplegia (CPEO), harbored the A3243G mtDNA mutation. The A8344G mutation was found in nine patients, all of whom suffered from myoclonic epilepsy and ragged-red fibers (MERRF) syndrome. The G11778A mtDNA mutation was found in 18 of 22 patients with Leber's hereditary optic neuropathy. The T8993C and T8993G mutations were found, respectively, in one and two patients with Leigh syndrome. Large-scale deletions of mtDNA were found in 17 patients with CPEO, one with KSS, one with MELAS, and two with MERRF syndrome. The mtDNA mutations in patients with each of the mitochondrial diseases found in Taiwan were restricted mainly to a single Site, while those reported for the same diseases in other ethnic groups occurred in many sites. Furthermore, significant levels of additional mtDNA mutations occurred in some patients with mitochondrial encephalomyopathies. We suggest that these additional (or secondary) mtDNA mutations are generated as a consequence of the preexisting primary mtDNA mutations and may contribute to the age-dependent progressive deterioration characteristic of mitochondrial diseases. |
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