Albright Syndrome

ALBRIGHT SYNDROME Description, Causes and Risk Factors: Also called as McCune-Albright syndrome, Albright hereditary osteodystrophy. Abbreviation: MAS. McCune-Albright syndrome is a genetic disease that affects the bones and color (pigmentation) of the skin.ALBRIGHT SYNDROME McCune-Albright syndrome is caused by mutations in the GNAS1 gene (located on chromosome 20q13.11 and originally reported to consist of 13 exons). The abnormal gene is present in a fraction, but not all, of the patient's cells (mosaicism).This disease is not inherited. It is caused by a new change (mutation) to the DNA that occurs in the womb while the baby is developing. This mutation is not passed on to any of the person's children. In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions by regulating the activity of hormones. The protein produced from the GNAS gene helps stimulate the activity of an enzyme called adenylate cyclase. GNAS gene mutations that cause McCune-Albright syndrome result in a G protein that causes the adenylate cyclase enzyme to be constantly turned on (constitutively activated). Constitutive activation of the adenylate cyclase enzyme leads to over-production of several hormones, resulting in the signs and symptoms of McCune-Albright syndrome. Experts believe that the extent of disease depends on when and where the mutation occurs at the embryonic stem cell level. The effect of the mutation could be disease in one bone or many bones with or without endocrine involvement.Gs alpha usually acts as an on/off switch. In MAS/FD the Gs alpha is stuck in the "on" position. People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When lesions occur in the bones of the skull and jaw it can result in uneven (asymmetric) growth of the face. Asymmetry may also occur in the long bones; uneven growth of leg bones may cause limping. No risk for siblings. No chance to hand-over to the next generation. Occurs sporadic

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