Until now, the COQ7 gene has only been implicated in very severe coenzyme Q10 deficiencies, for which coenzyme Q10 supplementation has led to stabilisation of the disease in some patients.
Researchers from the NeuroMyogen Institute have identified abnormalities in the COQ7 gene in 3 patients with a distal hereditary motor neuropathy related to Charcot-Marie-Tooth disease.
- Fibroblasts from the patients showed decreased levels of COQ7 protein and coenzyme Q10.
- The supply of coenzyme Q10 in vitro restores the proliferation of these affected fibroblasts.
- The researchers initiated this treatment in the 3 patients identified.
They also recommend adding COQ7 to the panel of genes for peripheral neuropathies.
