SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature.

Samira Molaei Ramsheh, Maryam Erfanian Omidvar, Maryam Tabasinezhad, Behnam Alipoor, Tayyeb Ali Salmani, Hamid Ghaedi

Molecular biology reports 2020 Dec

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The mitochondrial encephalomyopathies represent a clinically heterogeneous group of neurodegenerative disorders. The clinical phenotype of patients could be explained by mutations of mitochondria-related genes, notably SUCLG1 and SUCLA2. Here, we presented a 5-year-old boy with clinical features of mitochondrial encephalomyopathy from Iran. Also, a systematic review was performed to explore the involvement of SUCLG1 mutations in published mitochondrial encephalomyopathies cases. Genotyping was performed by implementing whole-exome sequencing. Moreover, quantification of the mtDNA content was performed by real-time qPCR. We identified a novel, homozygote missense variant chr2: 84676796 A > T (hg19) in the SUCLG1 gene. This mutation substitutes Cys with Ser at the 60-position of the SUCLG1 protein. Furthermore, the in-silico analysis revealed that the mutated position in the genome is well conserved in mammalians, that implies mutation in this residue would possibly result in phenotypic consequences. Here, we identified a novel, homozygote missense variant chr2: 84676796 A > T in the SUCLG1 gene. Using a range of experimental and in silico analysis, we found that the mutation might explain the observed phenotype in the family.

Citation

Samira Molaei Ramsheh, Maryam Erfanian Omidvar, Maryam Tabasinezhad, Behnam Alipoor, Tayyeb Ali Salmani, Hamid Ghaedi. SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature. Molecular biology reports. 2020 Dec;47(12):9699-9714