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
  dominantEn génétique, c’est la caractéristique d’un individu qui n’a besoin que d’un seul exemplaire d’un certain gène (allèle) pour s’exprimer. Cet exemplaire unique peut venir du père ou de la mère. 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