Distal hereditary motor neuropathy: identification of the COQ7 gene and coenzyme Q10 supplementation

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Until now, the COQ7 gene has only been implicated in very severe coenzyme Q10 deficiency, for which coenzyme Q10 supplementation has stabilized the disease in some patients.

In an article published in December 2022, researchers at the Institut NeuroMyogène identified abnormalities of the COQ7 gene in 3 patients suffering from distal hereditary motor neuropathy with central involvement related to Charcot-Marie-Tooth disease.

  • Fibroblasts taken from the patients showed decreased levels of COQ7 protein and coenzyme Q10.
  • The addition of coenzyme Q10 in vitro restores proliferation in these affected fibroblasts.
  • The researchers initiated this treatment in the 3 patients identified.

They also recommend adding COQ7 to the panel of peripheral neuropathy genes.

Since then, similar cases have been published in Brazil, Canada and China…

 

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy . A Jacquier , J Theuriet , F Fontaine  et al. Brain . 2022 Dec

 

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs. Rebelo AP, Tomaselli PJ, Jessica Medina J.  et al. Brain 2023 May

 

Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy. >Smith IC, Chantal A Pileggi CA, Ying Wang Y et al. Neurol Genet. 2023 Jan

 

Axonal Charcot-Marie-Tooth disease due to COQ7 mutation: expanding the genetic and clinical spectrum. Zhang XY, Dong HL, Wu ZY. Brain . 2023 Jun

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