What does progeria come from

The LMNA gene produces the Lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective Lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in Progeria.

Although they are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging within the first two years of life. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular heart disease and stroke. In accordance with this clinical observation, the genetic mutation appears in nearly all instances to occur in the sperm prior to conception.

It is remarkable that nearly all cases are found to arise from the substitution of just one base pair among the approximately 25, DNA base pairs that make up the LMNA gene. The LMNA gene codes for two proteins, lamin A and lamin C, that are known to play a key role in stabilizing the inner membrane of the cell's nucleus.

In laboratory tests involving cells taken from progeria patients, researchers have found that the mutation responsible for Hutchinson-Gilford progeria causes the LMNA gene to produce an abnormal form of the lamin A protein. That abnormal protein appears to destabilize the cell's nuclear membrane in a way that may be particularly harmful to tissues routinely subjected to intense physical force, such as the cardiovascular and musculoskeletal systems.

Interestingly, different mutations in the same LMNA gene have been shown to be responsible for at least a half-dozen other genetic disorders, including two rare forms of muscular dystrophy. In addition to its implications for diagnosis and possible treatment of progeria, the discovery of the underlying genetics of this model of premature aging may help to shed new light on humans' normal aging process.

In the past, doctors had to base a diagnosis of progeria solely on physical symptoms, such as skin changes and a failure to gain weight, that were not fully apparent until a child's first or second year of life.

This genetic test now enables doctors to diagnose a child at a younger age and initiate treatment early in the disease process. There is no cure for progeria, but occupational and physical therapy can help the child keep moving if their joints are stiff. Heart health is critical for people with progeria, so the doctor may prescribe statins, nitroglycerin for angina , and routine therapy for congestive heart failure.

Self-care tips may include eating different foods when the lipid, or fat, profile begins to change, and eating small meals regularly to maximize calorie intake. Sun screen is important for protecting the skin, and padding in shoes can help minimize discomfort caused by a lack of fat padding on the body. In children with progeria, genetic factors increase the risk of developing progressive heart disease from an early age. Children with progeria commonly experience cardiovascular events, such as hypertension , or high blood pressure , stroke, angina, an enlarged heart, and heart failure.

These conditions are linked to aging. The increased risk of heart disease means that life expectancy is normally between 8 years and 21 years, with an average of A doctor may suspect progeria by observing the signs and symptoms, for example, aging skin and hair loss. A test for HGPS is available. This can make diagnosis and treatment possible from an earlier age. The cause of progeria has only recently been identified, but significant work is taking place to try to understand it.

One possible treatment for progeria is farnesyltransferase inhibitors FTIs. These are currently used for treating cancer , but scientists believe they might reverse the nuclear structure abnormalities that are thought to cause progeria. Studies on mice with progeria-like signs and symptoms suggest that FTIs may offer some improvement. In September , results were released for a first clinical drug trial treatment for children with Progeria, using an FTI.

The findings showed significant improvements in bone structure, weight gain, and the cardiovascular system. In , another study indicated that an FTI known as lonafarnib may increase lifespan by an average of 1. Scientists are interested in understanding progeria. It may offer new insights into the aging process. The Progeria Research Foundation has created a diagnostic testing program. The signs of achondroplasia in babies can include an enlarged head, prominent forehead, and short arms and legs.