Identification of numerous variants on genes involved in mitochondrial diseases in peripheral neuropathies without genetic diagnosis

British researchers have re-examined the genomic analyses of 2,087 people registered on the Genome-Phenome Analysis Platform (GPAP) with possible peripheral neuropathy. They looked for variants in 183 genes involved in mitochondrial diseases.

  • They identified 1,379 rare variants, mainly in nuclear genes. Of these, 44 variants were already recognized as pathogenic.
  • The genes most frequently affected are GARS1 and GDAP1 for
    dominant forms, C12ORF65, GDAP1 and SACs for recessive forms, and MT-ATP6 for mitochondrial forms.

The authors recommend broadening the panel of genes studied for the diagnosis of peripheral neuropathies of undetermined cause to take account of a possible mitochondrial origin.

 

Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies Ferreira T, Polavarapu K, Olimpio C et al. J Neurol . 2024 Mar