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.

Giannese, D., Montano, V., Lopriore, P., Nesti, C., LoGerfo, A., Caligo, M.A., et al. (2023). A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report. JOURNAL OF NEUROMUSCULAR DISEASES, 10(1), 119-123 [10.3233/JND-221526].

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

Pasquinelli, Gianandrea
Methodology
;
Siciliano, Gabriele;
2023

Abstract

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.
2023
Giannese, D., Montano, V., Lopriore, P., Nesti, C., LoGerfo, A., Caligo, M.A., et al. (2023). A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report. JOURNAL OF NEUROMUSCULAR DISEASES, 10(1), 119-123 [10.3233/JND-221526].
Giannese, Domenico; Montano, Vincenzo; Lopriore, Piervito; Nesti, Claudia; LoGerfo, Annalisa; Caligo, Maria Adelaide; Dal Canto, Flavio; Pasquinelli, ...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/915567
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