Knowing Progeria, an aging disease caused by gene mutation

Knowing Progeria, an aging disease caused by gene mutation
July 10 07:12 2015 Print This Article

progerAccording to the study, progeria or premature aging disease is a genetic disease caused by a gene mutation. Progeria is not hereditary and not contagious. This disease is a very rare type of genetic disorder. Progeria is derived from the Greek as “old age”. So the patient is experiencing premature aging with speeds that range 4-7 times of the normal aging process. A concrete example, a 10 years old boy with progeria will seem like people aged 40-70 years! Aging is not just happening on the outward appearance but also on internal organs. This means that all the organs of the child’s body, including the respiratory organs, heart, and joints are aging quickly!
The only aspect that is not aging is a mental and thinking ability. So far there is no cure for progeria and progeria treatments are done only based on symptoms. For example, if patients experience joint pain then they will get medication for joint pain, whereas if they experience flu will be given flu drugs.

In general, experts have agreed that the main cause of this disease is the single gene mutation in the LMNA gene that is responsible for the formation of the protein lamin A and lamin C that are tasked with stabilizing proteins in the membrane of the cell (inner membrane). Experts suspect that the instability caused by a mutation is main factor of premature aging in children with progeria.
One terrible thing is this gene mutation can happen to anyone. The process takes place sporadically or can suddenly appear and can be experienced by anyone. A few years ago some scientists suspected that this disease was recessive, which means that the disease is acquired from the parent containing the mutated gene but that allegation was proven wrong later. First progeria case was proposed by Dr. Jonathan Hutchinson in 1886 and by Dr. Hastings Gilford eleven years later. So the disease is often referred to as Hutchinson-Gilford Progeria Syndrome (HGPS).

Progeria is different from other diseases that usually can be detected in infancy, even while still in the womb. This disease indeed appears after a child pass first year of his life. No wonder that in the 0-1 year age range, a prospective progeria patient would appear normal. The patients with progeria are born normal like babies in general but at the age of 6 months to 1 year, they began to experience the symptoms of aging such as:

• hair loss and cannot grow anymore
• thinning of the skin and skin tissue
• nails and teeth grow imperfectly

In general, there are few clinical symptoms of progeria that are quite scary in addition to some of those mentioned above. The patient will experience stiffness in the joints, bone fractures or cracks that never healed and the fragility of the bones. Other symptoms that can be fatal if the patient are experiencing stiffness of their blood vessel. Especially when stiffness occurs in the blood vessels of the heart, it is most likely the patient will have a heart attack or stroke. Heart attack should be considered as a major cause of death among patients with progeria. In the end we can only pray that our descendants would not experience this mutation while experts are working hard to find medical solutions to the progeria.

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