Leicester team discovers nystagmus gene
By John Sanders
October 3, 2006 -- Researchers based in Leicester, England, have for the first time discovered the gene mutation for X-linked nystagmus. “It is a previously undiscovered gene and related proteins are probably involved in nerve growth in the retina and cerebellum,” Irene Gottlob, Professor of Ophthalmology at the University of Leicester and leader of the research team, told the Nystagmus Network.
The gene is FRMD7, a newly identified member of the FERM family. In an article for Nature Genetics, the team said: “We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.”
Implications
The discovery of the gene does not have any short term implications for the treatment of nystagmus. The next step is to investigate the function of the gene to find out exactly how it is implicated in the development of nystagmus in infants.
However, in the longer term, the work carried out by Professor Gottlob’s team does represent a major breakthrough in nystagmus research. Chris Harris, Professor of Neuroscience at the Centre for Theoretical and Computational Neuroscience, University of Plymouth, commented: “This is really good news. This gives us a whole new way to look at nystagmus and could result in huge implications for people with nystagmus.” Professor Harris is a scientific adviser to the Nystagmus Network.
Other nystagmus research
Professor Gottlob, a medical adviser to the UK Nystagmus Network, is working on several other nystagmus research projects. At the first international nystagmus research workshop held in England in September 2005, Professor Gottlob discussed an ongoing project to test the effectiveness of drug treatment for nystagmus.
The workshop was organised by the Nystagmus Network and attended by more than 25 leading medics and scientists from the UK, the USA, Germany and Australia.
© John Sanders, October 2006
This article may not be used in whole or in part without the author’s permission.
Email: John Sanders
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