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.
J Neuromuscul Dis. 2023;10(1):119-123. doi: 10.3233/JND-221526.
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.
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.
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.
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。
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。
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。
