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Molecular Defect

Mitochondrial Antibodies TGF Dysregulations

Mitochondrial Antibodies

Mitochondrial Antibodies occur in about 95% of people who have primary biliary cirrhosis (PBC), but only 3% of people who have PBC have systemic scleroderma. (Also see What is Scleroderma? and Types of Scleroderma)

United Mitochondrial Disease Foundation. Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. United Mitochondrial Disease Foundation.

Human enteric neuropathies: morphology and molecular pathology. The aim of this study is to review current understanding of the molecular and morphological pathology of the enteric neuropathies affecting motor function of the human gastrointestinal tract. PubMed, Neurogastroenterol Motil. 2004 Oct;16(5):515-31. (Also see GI Involvement)

Patterns of autoimmunity in primary biliary cirrhosis patients and their families: a population-based cohort study. Primary biliary cirrhosis (PBC) is a chronic liver disease characterized by damage to, and destruction of, the biliary epithelial cells lining small intra-hepatic bile ducts.1 PBC exhibits a number of autoimmune features, including the almost universal presence of auto-antibodies reactive with highly conserved mitochondrial antigens (anti-mitochondrial antibodies, AMA). Q J Med 2004; 97: 397-406. (Also see Liver Involvement)

TGF Dysregulations

Some researchers suspect that a molecular defect in TGFbeta/SMAD may play a role in the development of scleroderma fibrosis.

Study Shows Treatment with Fresolimumab Able to Reduce Skin Scarring in Systemic Scleroderma patients. Fresolimumab, sponsored by Genzyme, a drug agent that targets a chemical mediator in the body called TGF-beta, is able to block scarring which could mean a major treatment advance for scarring-mediated organ dysfunction. Scleroderma News, 06/23/2015. (Also see Skin Fibrosis and Scleroderma Clinical Trials)

Skin involvement in scleroderma--where histological and clinical scores meet. The histological extent of skin fibrosis correlates closely with the mRSS. Both parameters appeared to regress after HSCT (haematopoietic stem cell transplantation). The extent of TGF-beta signalling activation in SSc skin fibroblasts appears to parallel the severity of disease. PubMed, Rheumatology (Oxford). 2007 Jan 25. (Also see Skin Fibrosis)

Urticarial vasculitis appearing in the progression of systemic sclerosis (SSc). We demonstrate that, in the present case, mast cells might be involved in both courses of urticarial vasculitis and SSc as a common factor. PubMed, J Dermatol. 2006 Nov;33(11):792-7. (Also see Vasculitis, Skin Fibrosis, and Limited Scleroderma)

A clue for telangiectasias in systemic sclerosis: elevated serum soluble endoglin levels in patients with the limited cutaneous form of the disease. Patients with elevated sEndoglin levels had telangiectasia more frequently than those with normal sEndoglin levels. PubMed, Dermatology. 2006;213(2):88-92. (Also see Telangiectasia, Pulmonary Hypertension, and Limited Scleroderma)

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