A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report

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.

Automated summary

This article reports a case of a 49-year-old Italian female with encephalomyopathy, chronic proteinuric kidney disease, and a new heteroplasmic m.3274 3275delAC MT-TL1 gene mutation, which has not been described in the literature. Conclusion: This case demonstrates a systemic mitochondrial disease caused by the heteroplasmic m.3274 3275delAC MT-TL1 gene mutation, and a mitochondrial disease should be suspected in case of complex multisystem phenotypes.