Systemic sclerosis genetics

Arnett FC, Reveille JD, Goldstein R, Pollard KM, Leaird K, Smith EA, Leroy EC, Fritzler MJ (1996) Autoantibodies to fibrillarin in systemic sclerosis (scleroderma). An immuno-genetic, serologic, and clinical analysis. Arthritis Rheum, 39 1151-1160. 

There is a large body of work on the genetics of systemic sclerosis (68). With the important caveat that autoantibody patterns appear to alter the chance of specific organ involvement, few studies have shown polymorphisms specific for pulmonary fibrosis in systemic sclerosis. Many studies have included too few... 

Mayes M, Reveille JD. Epidemiology, demographics, and genetics. In Clements PJ, Furst DE, eds. Systemic Sclerosis. Philadelphia Lippincott Williams WiUdns, 2004 1 16. 

McNeamey TA, Reveille JD, Fischbach M, et al. Pulmonary involvement in systemic sclerosis associations with genetic, serologic, sociodemographic, and behavioral factors. Arthritis Rheum 2007 57 318-326. 

Interferons—Family of immune system signal proteins that interfere with the ability of viruses to infect cells. Interferons have been genetically engineered to provide treatments by weakening immune response in autoimmune disease such as multiple sclerosis, or by strengthening immune response in diseases like hepatitis C. 

Regulation of homocysteine metabolism appears to be especially important in the central nervous system, presumably because of the critical role of methyl transfer reactions in the production of neurotransmitters and other methylated products. It has been known for decades that mental retardation is a feature of the genetic diseases, such as CBS deficiency, that cause severe hyperhomocysteinemia and ho-mocystinuria. Impaired cognitive function is also seen in pernicious anemia, which causes hyperhomocysteinemia due to deficiency of cobalamin (see Chapter 28). Hyperhomocysteinemia also may be linked to depression, schizophrenia, multiple sclerosis, and Alzheimer s disease. The molecular mechanisms underlying these clinical associations have not yet been delineated. 

Ungerstedt U, Arbuthnott GW (1970) Quantitative recording of rotational behavior in rats after 6-hydroxy-dopamine lesions of the nigrostriatal dopamine system. Brain Res 24 485-493 Valdmanis PN, Rouleau GA (2008) Genetics of familial amyotrophic lateral sclerosis. Neurology 70 144-152... 

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