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

0 Comments

Submit a Comment

Your email address will not be published. Required fields are marked *

Cart Preview

Regular Exercising May Keep Your Heart and Main Arteries Young

Regular Exercising May Keep Your Heart and Main Arteries Young

According to a recent study, published in The Journal of Physiology, exercising four to five times per week may help stop the main arteries to the heart from stiffening up. The researchers from the US have found that those who exercise four to five times per week had...

Intermittent Fasting May Increase the Risk of Type 2 Diabetes

Intermittent Fasting May Increase the Risk of Type 2 Diabetes

A new study from Brazil suggests that trendy intermittent fasting may be the reason for increasing insulin levels and the amount of abdominal fat. It also may lead to the damage of pancreatic cells. Intermittent fasting diet is a diet when a dieting person has “fast”...

Quiz about this article

Please answer on few questions to make our service more useful

Featured Products

Spring is Here: Top 6 Outdoor Sports

Good weather is the best reason to do outdoor sports, which will help not only lose weight, but also will strengthen health. Bicycle The sun dries out the local paths, so you can safely sit on your favorite bike and confidently twist the pedals, where the eyes look....

read more

First Aid in Case of Injuries for Sport and Exercise

First aid for injuries consists of simple rules that need to be clearly implemented. If this is a closed injury, you need to immobilize the injured limb, otherwise the person may lose consciousness from a painful shock. If you need to get to the emergency room...

read more