Isolated Italian population breathes new life into multiple sclerosis research
30 May 2007
People living in the Sardinian province of Nuoro have helped a team of scientists to identify a link between a gene called ACCN1 and multiple sclerosis (MS) that if verified could lead to a new approach to therapy and understanding of the disease. Nuoro’s isolated population has a high prevalence of MS and more than one person has the condition in many families.
Families based in the province of Nuoro are ideal for studying the role genetics play in a complex disease like MS. Historically, few new genes were introduced into the population and so little genetic variability has been generated among people living there. As a result many of the people carry similar patterns of genes in their DNA.
The team carried out a statistical analysis of the genes present in the population with a focus on one DNA region previously known to be linked to MS. The ACCN1 gene sits in this region. The gene’s function is to give instructions for a protein that is involved in passing messages between nerve cells. The researchers discovered that the level of function of the gene might be modified in people who have a particular variant of the gene and that this variant could be linked to MS.
Professor Bernardinelli explains:
‘‘This is the first time that evidence of a link between the ACCN1 gene and MS has been found. Our research result is further strengthened by other recent findings from biological and population based studies. Most interesting among these is evidence that the product of the ACCN1 gene may be involved in the generation of pain, including the intense nerve pain known as neuropathic pain that is often experienced by people who have MS.’’
‘‘The next aim of our research will be to understand what influence the variant version of the ACCN1 gene has on the gene’s normal product, and if this variant does actually have any role in causing MS.’’
If it is discovered that the ACCN1 gene is involved in MS, the gene could become a target for development of future medicines, not only for severe nerve pain but also to reduce the damage caused by the inflammation that occurs at different stages of MS.
Future research will be based on the Nuoro MS biobank and will extend beyond the Nuoro population to involve DNA samples from other Caucasian populations.
The research, published in the Public Library of Science, was led by Professor Luisa Bernardinelli of the MRC Biostatistics Unit and the Department of Applied Health Sciences, University of Pavia, Prof. Carlo Berzuini of the MRC Biostatistics Unit and Department of Computer Engineering and System Science, Pavia in collaboration with colleagues at the Department of Neurology and the Tissue Typing Center at Nuoro Hospital in Pavia and with Sir David Cox at Oxford University. It was funded by Fondazione CARIPLO, University of Pavia and ASL N 3, Nuoro,Italy.
Original research paper: Association between the ACCN1 gene and multiple sclerosis in Central East Sardinia is published in the journal Public Library of Science
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