Mutations are often contributors to diseases and it seems that Multiple Sclerosis (MS) is not an exception to this. Biostatistician Knut Wittkowski from The Rockeller University’s Center for Clinical and Translational Science has analysed thousands of genes relevant to the disease to find some interesting results.
MS, a degenerative disease that involves the immune system ‘attacking’ the axons of nerve cells in the central nervous system (CNS), is a debilitating condition. MS causes pain to the patient from electrical, cellular impulses and a loss of functions of the CNS. To date, no cure has been developed for this disease. However, it has been established that genetic and environmental factors can predetermine a person’s likelihood of developing the disease. Recent research conducted by Wittkowski focused on the gene HLA-DRB1. The exact relationship between HLA-DRB1 and MS is yet to be determined.
Above: A histocompatibility complex (http://www.mult-sclerosis.org/)
Wittkowski’s research focused on the gene as it is a part of a major histocompatibility complex (a part of the immune system). HLA-DRB1 has also been identified as the ‘single most important genetic risk factor’ for MS. Wittkowski’s research conjectures that a mutation (a change to base pairs) in an amino acid (number 13) that is a part of HLA-DRB1 significantly increases the risk of developing MS. This hypothesis has been declared by colleague Sreeram Ramagopalan as ‘plausible’.
Amino acid 13 assists immune cells to identify and destroy foreign matter. After mutation, amino acid 13 affects the immune cells in such a way that healthy cells of the patient are then attacked by the histocompatibility complex. This hypothetical explanation for MS is being further researched at Oxford in other animal models. If this hypothesis is substantiated by the research, the mutation site can then be exploited as the target site for a drug to treat MS.
Wittkowski’s research has provided some of the groundwork for the potential development of a treatment for MS. This treatment can only be welcomed by MS sufferers and the general public alike. The research paper can be found in BMC Medical Genetics.
Amino acid 13 assists immune cells to identify and destroy foreign matter. After mutation, amino acid 13 affects the immune cells in such a way that healthy cells of the patient are then attacked by the histocompatibility complex. This hypothetical explanation for MS is being further researched at Oxford in other animal models. If this hypothesis is substantiated by the research, the mutation site can then be exploited as the target site for a drug to treat MS.
Wittkowski’s research has provided some of the groundwork for the potential development of a treatment for MS. This treatment can only be welcomed by MS sufferers and the general public alike. The research paper can be found in BMC Medical Genetics.
Resources:
1) Rockefeller University (2009, February 17). Statistical Analysis Could Yield New Drug Target For Multiple Sclerosis. ScienceDaily. Retrieved March 14, 2009, from http://www.sciencedaily.com /releases/2009/02/090213103053.htm
2) Ramagopalan et al. An extension to a statistical approach for family based association studies provides insights into genetic risk factors for multiple sclerosis in the HLA-DRB1 gene. BMC Medical Genetics, 2009; 10 (1): 10 DOI: 10.1186/1471-2350-10-10
2) Ramagopalan et al. An extension to a statistical approach for family based association studies provides insights into genetic risk factors for multiple sclerosis in the HLA-DRB1 gene. BMC Medical Genetics, 2009; 10 (1): 10 DOI: 10.1186/1471-2350-10-10
3) Paul, Jones (2008, January 31). All About Multiple Sclerosis. Multiple Sclerosis Information Trust, Retrieved March 14, 2009, from http://www.mult-sclerosis.org/
By Nicole Sickelmore (41762600)
