Mitochondrial disease associated with m.3243A>G mutation in MT-TL1 gene#br# #br# PDF 475 摘要/Abstract 摘要: 青年女性患者,慢性起病,临床表现为多系统损害。肾脏损害表现为少至中等量尿蛋白,尿隐血基本阴性,血清肌酐正常,高尿酸血症,血压正常,无贫血。肾外表现身材矮小、糖尿病、高频听力下降及预激...
thepossibilityofMDMshouldbeconsideredanditcanbefurtherconfirmedbymitochondrialDNA MTGTL1genedetection.KEY WORDS : mitochondria ; diabetesmellitus ; maternalinheritance ; MTGTL1gene 线粒体糖尿病( mitochondrialdiabetesmelliG tus , MDM )是一组由于线粒体呼吸链和氧化磷酸化1 9南昌大学学报(医学版) 2021 年第...
The MT-TL1 gene encodes mitochondrial tRNA leucine 1 (UUA/G), which adds the amino acid leucine to the growing polypeptide chain of mtDNA-encoded subunits during translation. From:Handbook of Clinical Neurology,2023 Discover other topics
线粒体DNA MT-TL1基因m.3243A>G(A3243G)突变是最常见的致病性线粒体基因突变,也是临床表现最为复杂的突变之一.临床表型的累及范围包括脑和神经,心脏,骨骼肌,内分泌,胃肠道,皮肤等多个器官和系统,严重程度从无症状到致命性的猝死综合征.而且最新研究发现携带m.3243A>G突变的孕妇在孕产期并发症方面也有很多突出...
Ten percent of patients are associated with another mutation in the same MT-TL1 gene encoding tRNA-Leu(UUR), namely m.3271T > C (Goto, 1992). Rest of the patients carry mutations in other mt-tRNA genes or respiratory chain protein coding genes such as MT-CO3 encoding complex 4 subunit...
线粒体糖尿病家系MT-TL1基因m.3243A>G突变1例临床特征分析杨玉 吴贵员 黄慧 陈卡 熊婷 作者及单位信息 出版日期: 2022 -02 -18 · DOI: 10.13764/j.cnki.ncdm.2021.06.018Clinical Characteristics of m.3243A>G Mutation in MT-TL1 Gene in a Mitochondrial Diabetes Family:an Analysis of a Case...
mitochondrial DNA. Approximately 80% of MELAS cases are caused by the mutation m.3243A4G of the mitochondrial tRNALeu (UUR) gene (MT-TL1). We reported two probands with MELAS features. Muscle biopsy identified ragged-r...
6. Correction of the consequences of mitochondrial 3243AG mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria [O] . Olga Z. Karicheva, Olga A. Kolesnikova, Tom Schirtz, 2011 机译:通过将tRNA导入线粒体来纠正导致MELAS综合征的MT-TL1基因中线粒体3243A G...
Mitochondrial genetic testing revealed an A3243G mutation in the MT-TL1 gene, which is a mitochondrial encoded transfer RNA-leucine molecule. CONCLUSIONS: Mitochondrial disease should be considered in patients presenting with unexplained cardiomyopathy and skeletal muscle, cerebral, or metabolic ...
Several other pathologic mutations in theMT-TL1gene have been also associated withDCM(Table 1). At the age of five months, three patients harboring the m.3242 G > A transition presented signs of a multi-systemic disease, including DCM [45,46]. On the other hand, the heart was th...