CCR5 Δ32, matrix metalloproteinase-9 and disease activity in multiple sclerosis

Genetics of primary progressive multiple sclerosis

“…A 32-basepair deletion in the coding region of CCR5 (CCR5 d32) abolishes CCR5 function and may impair entry of inflammatory cells into MS lesions. However, several studies did not find an association between CCR5 d32 and MS susceptibility (Bennetts et al, 1997;Chataway et al, 1999;Barcellos et al, 2000;Sellebjerg et al, 2000). A German case-control study of 201 RR/SPMS and 42 PPMS patients did not find an association of the CCR5 d32 with disease course (Haase et al, 2002).…”

Cleavage of myelin associated glycoprotein by matrix metalloproteinases

“…MMP levels are increased in MS (Anthony et al, 1997;Cossins et al, 1997;Gijbels et al, 1992;Maeda and Sobel, 1996;Ozenci et al, 2000;Ozenci et al, 1999;Rosenberg et al, 1996;Sellebjerg et al, 2000;Trojano et al, 1999;Waubant et al, 1999) and in animal models of MS including experimental allergic encephalomyelitis (EAE) Gijbels et al, 1993;Graesser et al, 1998;Graesser et al, 2000;Jovanova-Nesic and Shoenfeld, 2006;Kieseier et al, 1998;Teesalu et al, 2001), and are very closely linked to pathogenesis and disease progression. Elevated serum MMP activity is detectable extremely early in the disease course, being present even in prodromal phases prior to development of clinically diagnosed MS (Correale and Bassani Molinas Mde, 2003).…”

CCR5-Δ32 mutation is strongly associated with primary sclerosing cholangitis

“…In patients with multiple sclerosis, the mutation is associated with a delayed age of onset of the disease and a lower risk of recurrent clinical disease activity. 27,28 There have been six published papers on CCR5-D32 in IBD populations. One study found a significant association between CCR5-D32 homozygosity and perianal CD.…”