Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Accept all cookies Reject all non-essential cookies Find out more

Ancient gene mutation found to cause rare hereditary condition

UK scientists have found that a 7,000-year-old genetic mutation is responsible for a rare form of hereditary motor neuropathy (HMN).

Lucrezia
Lucrezia was one of 10 participants on the 100,000 Genomes Project found to have the genetic mutation.

In a paper, published in the journal Brain, geneticists and clinicians from the University of Oxford and University College London who led the international study said they had found that the novel disease gene VWA1 was linked to the progressive condition HMN. The research was supported in part by the NIHR Oxford Biomedical Research Centre.

HMN affects the nerves leading from the spinal cord to the muscles in the limbs, and causes muscle weakness and affects movement in the feet and legs. Onset of HMN often occurs in teenagers, although it can happen later in life

Ten participants from the 100,000 Genomes Project were identified as having VWA1 gene mutations – an unusually high number for a newly-described genetic condition. The 100,000 Genomes Project, was established to sequence 100,000 genomes from NHS patients affected by a rare disease or cancer, and has now paved the way for the UK’s new Genomic Medicine Service.

The full story is available on the NIHR Oxford Biomedical Research Centre website.