一种由新型 MT-TL1 mtDNA 变异引起的多系统线粒体疾病：病例报告。
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.
机构信息
Department of Clinical and Experimental Medicine, Nephrology, Transplant and Dialysis Division, University Hospital of Pisa, Pisa, Italy.
Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
出版信息
J Neuromuscul Dis. 2023;10(1):119-123. doi: 10.3233/JND-221526.
BACKGROUND
Mitochondrial tRNA (MTT) genes are hotspot for mitochondrial DNA mutation and are responsible of half mitochondrial disease. MTT mutations are associated with a broad spectrum of phenotype often with complex multisystem involvement and complex genotype-phenotype correlations. MT-TL1 mutations, among which the m.3243A>G mutation is the most frequent, are associated with myopathy, maternal inherited diabetes and deafness, MELAS, cardiomyopathy, and focal segmental glomerulosclerosis.
CASE STUDY
Here we report the case of an Italian 49-years old female presenting with encephalomyopathy, chronic proteinuric kidney disease and a new heteroplasmic m.3274_3275delAC MT-TL1 gene mutation.
CONCLUSIONS
Our case demonstrates a systemic mitochondrial disease caused by the heteroplasmic m.3274_3275delAC MT-TL1 gene mutation, not yet described in the literature. A mitochondrial disease should be suspected in case of complex multisystem phenotypes, including steroid-resistant nephrotic syndrome with multisystemic involvement.
背景
线粒体 tRNA（MTT）基因是线粒体 DNA 突变的热点，负责一半的线粒体疾病。MTT 突变与广泛的表型相关，常伴有复杂的多系统受累和复杂的基因型-表型相关性。MT-TL1 突变中，m.3243A>G 突变最为常见，与肌病、母系遗传性糖尿病和耳聋、MELAS、心肌病和局灶节段性肾小球硬化有关。
病例研究
本文报告了一例意大利 49 岁女性，表现为脑病、慢性蛋白尿性肾病和新的异质性 m.3274_3275delAC MT-TL1 基因突变。
结论
我们的病例表明，由异质性 m.3274_3275delAC MT-TL1 基因突变引起的系统性线粒体疾病，尚未在文献中描述。在复杂的多系统表现，包括类固醇耐药性肾病综合征伴多系统受累的情况下，应怀疑线粒体疾病。
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