Progeria Case

Progeria

Recall the case of Benjamin Button, He was born as an old man around the age of seventy and ages backwards. This is the Progeria Syndrome disease in reverse. Children affected with HGPS are born as "normal" looking newborns but age rapidly as they get older. , also known as Hutchinson-Gilford syndrome (HGPS), is a very rare genetic disease and is typically not inherited. Progeria comes from the greek word pro (which means before) and ge`ras (meaning old age). Many scientist show extreme interest in this disease, feeling as though it may shed some light on the cycle of aging. HGPS is an autosomal dominant genetic disease caused by a mutation on the gene LMNA which is found in the nucleus of the cell and is responsible for the integrity of it. The LMNA gene in HGPS patients have underwent a point mutation defecting the gene. The etiology of HGPS has remained unknown so far.1

Some of the symptoms associated with this unique disease include aged looking skin with small lips, ears that stand out, prominent eyes, small nose, and a small chin. Children also have a small face size accompanied by a larger head with a low body weight. Fat under the facial skin also decreases creating a sort of "sagging" appearance. Although the children affected appear to be aged, at birth they look normal and it isn't until early infancy and later that they start to develop slower than other children.4

Those affected with the disease also experience their arteries hardening, also known as arteriosclerosis, which in turn may lead to heart attacks and strokes. Children may also experience hip dislocation, joint stiffness, and a loss of hair around the age of two such as hair on the scalp and facial area.

Teeth of those affected by the disease may be immature or missing and because their body has not matured appropriately they may still have am open soft spot which is often seen in infants. Ironically though, the disease does not impair the affected person's ability to function like a unaffected individuals such as standing, walking, and thinking properly. In addition these symptoms usually don't appear until the 9-24 month that they are born.

Although the life expectancy is relatively short for those suffering from this disease, it is important to note that there has yet to be a cure for this disease however many treatments are used with the intent to extend their life as much as possible and to reduce a lot of the symptoms associated with the disease. Because of the heart problems that many patients experience, regular cardiovascular checkups are recommended and low aspirin doses may be taken to reduce the risk of strokes and heart attacks. Physical therapy is also recommended to expand their range of motion and reduce joint stiffness, strengthen the hip, and to reduce joint problems. Many children or young adults living with HGPS have a low body fat percentage. Because of this, a diet high in calories is recommended and for those patients who are not able to eat or feed themselves properly they may be put on a feeding tube to ensure that they are receiving the nutrients necessary.

Along with the basic treatments used that I discussed in the previous section, a limited amount of medications can be used in conjunction with the basic plan to promote a healthier lifestyle for the patient. Farnesyltranferase inhibitors, also known as FTI's, have showed promising results in recent lab studies.

FTI's which are normally used in cancer patients have shown to reverse nuclear abnormalities in the cell which are believed to cause the disease. Pravastatin and Zoledronate have also been used in treatment to block off the production of farnesyl production. More natural medications include Vitaman E, Safflower, Lycopoene, and Lutein which have shown to reduce or help with the hardening of the arteries. It is important to know however that no treatments have been proven highly effective and most treatments just work towards reducing the complications of the disease.2

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