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Scleroderma Research Points at New Genetic Region

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Scleroderma related image Photo: Getty Images

Scleroderma is a chronic, non-communicable, auto-immune disease that affects among other things the skin of the affected person. It basically involves the hardening, tightening or thickening of the skin and may include vascular alterations. (Source: WebMD, WebMD Medical Reference provided in collaboration with the Cleveland Clinic; Article Title: Pain Management: Scleroderma; Reviewed by: Reviewed by the doctors at The Cleveland Clinic Department of Pulmonary, Allergy & Critical Care Medicine; URL: http://www.webmd.com/pain-management/scleroderma).

It is believed that scleroderma has a genetic inheritance element as its chief cause. The hardening of skin and connective tissues can be localized to the skin only and is known as localized scleroderma, or it may affect the internal organs, blood vessels and systems of the body when it is known as systemic scleroderma.

Recent research supported and published in January 2011 by the National Institute of Arthritis and Musculoskeletal and Skin Disease, NIAMS (Page Title: Spotlight on Research 2011; Article Tilte: Scientists Identify New Genetic Region Associated with Scleroderma; URL: http://www.niams.nih.gov/News_and_Events/Spotlight_on_Research/2011/scleroderma_gene_region.asp) reported the identification of a new genetic region responsible of the onset of systemic scleroderma. This study was also supported in part by the National Institutes of Health’s (U.S. Department of Health and Human Services) National Center for Research Resources and the National Institute of Mental Health (NIMH).

The study implemented the technique popularly known in scientific circles as the "genome-wide association" in which genes of a large number of affected persons are compared with a large number of persons not suffering from the condition. This technique helped the scientists identify a particular region of the genome (named CD247) which was earlier not thought of as associated with the development of systemic sceleroderma. Another study was carried out including populations from the U.S. and Europe which also pointed out the same area of the genome.

CD247 is believed to be an important link and component in the process of immune cell activation. CD247 is that portion of the gene encoding on the surface of T-cells (immune cells) that has to be activated so that the pathway of immune responses is sparked in the body. This arrangement is called the "master switch" for immune cell activation. Generally, the trigger needed for CD247 to spark the activation is an external agent such as a virus, bacteria or pollutant chemicals. In auto-immune diseases, the process is initiated without an outside trigger. The report stated that “Genetic changes in any of the molecules that make up the CD247 complex could change the ability of the cell to recognize and react to activation signals.”

The new finding has also helped the scientists confirm that scleroderma is indeed an auto-immune disease, a topic that was open to debate earlier. The reason it is important to identify it as an auto-immune disease is that it will provide cues in further researches that will help find what exactly is the abnormality or aberration in CD247 as well as the other genes involved.

(Research Credits and Mentions: Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R, Coenen MJ, Vonk MC, Voskuyl AE, Schuerwegh AJ, Broen JC, van Riel PL, van 't Slot R, Italiaander A, Ophoff RA, Riemekasten G, Hunzelmann N, Simeon CP, Ortego-Centeno N, González-Gay MA, González-Escribano MF; Spanish Scleroderma Group, Airo P, van Laar J, Herrick A, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels P, Westhovens R, Kreuter A, Kiener H, de Baere E, Witte T, Padykov L, Klareskog L, Beretta L, Scorza R, Lie BA, Hoffmann-Vold AM, Carreira P, Varga J, Hinchcliff M, Gregersen PK, Lee AT, Ying J, Han Y, Weng SF, Amos CI, Wigley FM, Hummers L, Nelson JL, Agarwal SK, Assassi S, Gourh P, Tan FK, Koeleman BP, Arnett FC, Martin J, Mayes MD. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet. 2010 May;42(5):426-9. Epub 2010 Apr 11. PubMed PMID: 20383147.)


Reviewed June 15, 2011
Edited by Alison Stanton

Mamta Singh is a published author of the books Migraines for the Informed Woman (Publisher: Rupa & Co. URL: http://www.amazon.com/Migraines-Informed-Woman-Tips-Sufferer/dp/8129115174/ref=sr_1_2?ie=UTF8&s=books&qid=1298990756&sr=1-2), the upcoming Mentor Your Mind (Publisher: Sterling Publishers) and The Urban Woman’s Integrated Fitness Guide (Publisher: Hay House India). She is also a seasoned business, creative and academic writer. She is a certified fitness instructor, personal trainer & sports nutritionist through IFA, Florida USA. Mamta is an NCFE-certified Holistic Health Therapist SAC Dip U.K. She is the lead writer and holds Expert Author status in many well-received health, fitness and nutrition sites. She runs her own popular blogs on migraines in women and holistic health. Mamta holds a double Master's Degree in Commerce and Business. She is a registered practitioner with the UN recognised Art of Living Foundation. Please visit www.mamtasingh.com

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