Mutational analysis of the mitochondrial tRNA^Leu(UUR) gene in Tunisian patients with mitochondrial diseases

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• 作者：Emna Mkaouar-Rebai ; Abdelaziz Tlili ; Saber Masmoudi ; Neila Belguith ; Ilhem Charfeddine ; Mouna Mnif ; Chahnez Triki ; Faiza Fakhfakh
• 关键词：A3243G mutation ; tRNA^Leu(UUR) gene ; Mitochondrial ND1 gene ; Diabetes ; Hearing loss ; MIDD ; T3396C
• 刊名：Biochemical and Biophysical Research Communications
• 出版年：2007
• 出版时间：20 April 2007
• 年：2007
• 卷：355
• 期：4
• 页码：1031-1037
• 全文大小：338 K

文摘

The mitochondrial tRNA^Leu(UUR) gene (MTTL) is a hot spot for pathogenic mutations that are associated with mitochondrial diseases with various clinical features. Among these mutations, the A3243G mutation was associated with various types of mitochondrial multisystem disorders, such as MIDD, MELAS, MERRF, PEO, hypertrophic cardiomyopathy, and a subtype of Leigh syndrome. We screened 128 Tunisian patients for the A3243G mutation in the mitochondrial tRNA^Leu(UUR) gene. This screening was carried out using PCR-RFLP with the restriction endonuclease ApaI. None of the 128 patients or the 100 controls tested were found to carry the mitochondrial A3243G mutation in the tRNA^Leu(UUR) gene in homoplasmic or heteroplasmic form. After direct sequencing of the entire mitochondrial tRNA^Leu(UUR) gene and a part of the mitochondrial NADH dehydrogenase 1, we found neither mutations nor polymorphisms in the MTTL1 gene in the tested patients and controls, and we confirmed the absence of the A3243G mutation in this gene. We also found a T3396C transition in the ND1 gene in one family with NSHL which was absent in the other patients and in 100 controls. Neither polymorphisms nor other mutations were found in the mitochondrial tRNA^Leu(UUR) gene in the tested patients.