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.
