Progeria.

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Progeria or also known as Hutchinson-Gilford progeria syndrome is a genetic disorder or condition that is typically characterized by the dramatic and rapid appearance of significant aging that starts during the patients’ early childhood. Children with progeria grow more slowly than other children their age normally would and do not gain much weight at the normal rate which is one of the signs of failure to thrive although children with progeria usually look normal when they are born and also, during early stages of infancy.

            The prominent signs in progeria can be seen from their features; protruding ears that may look like that of pixies; they have small chins, thin noses that resemble birds’ beaks, thin lips, and very prominent eyes. This genetic disorder also causes aged-looking skin, baldness due to hair loss or in scientific terms, alopecia, a loss of fat and adipose tissues under their skin (subcutaneous fat) and also, joint abnormalities. The development of motor movement or skills of children affected with this genetic disorder are however, not affected as they are able to stand, walk, sit and do things on a daily basis well. Progeria also does not interfere with children’s intellectual development and children with progeria are known to have bright and cheerful personalities and sharp minds.

            Progeria is derived from ‘geras’ which means old age in Greek. It is assumed to typically affect one in four million newborns around the world. As progeria is extremely rare, not much has been hear about it before and society is usually not aware that this genetic disease or genetic disorder even exists. Doctor Jonathan Hutchinson first described and logged down this disease in the year 1886 and then in the year 1904, Doctor Hastings Gilford also did the same. The disease is named after the two of them as they were the ones who first mentioned about it and left an impact in the medical society. Coming back to the signs of progeria; within the short period of a year, children with progeria have slower growth rates and soon become shorter than most children their age.

Children with progeria are also known to be sufferers of symptoms old people usually suffer from which include hips dislocations, severe progressive cardiovascular diseases and also stiffness in their joints. Thankfully, children that have progeria are not known to have osteoporosis or cataracts which are symptoms atypical of that of an old person. In attempts to help with the life threatening cardiovascular complications that are caused by progressive atherosclerosis, some children affected with progeria have to undergo coronary artery bypass surgery and/or angioplasty. Death comes morbidly early for progeria sufferers as most die at an average of 13 years normally from strokes or heart attacks.

What are the causes of progeria? NHGRI researchers combined their knowledge with researchers at the Progeria Research Foundation in the New York State Institute for Basic Research in Developmental Disabilities and also, with the University of Michigan in 2003 and thus, discovered that progeria is caused by a minute point mutation in a singular gene called the lamin A or LMNA. The genetic mutation appears in nearly all the cases to occur in sperm right before conception. The substitution of only one base pair among the estimated 25 000 DNA base pairs that form the LMNA gene is found to arise in almost all the cases of recorded progeria sufferers and is amazing. This gene codes for two proteins which are the lamin A and the lamin C; both which are known to play significant parts in stabilizing the inner membrane of the cell nucleus. Researchers found that the mutation responsible for progeria causes the LMNA gene to create an abnormal kind of the lamin A proteins; in laboratory tests involving cells extracted from progeria patients. That single abnormal protein may destabilize the cell’s nuclear membrane that might be injurious to the tissues that are subjected to aggressive physical force on a routine basis like the cardiovascular and musculoskeletal systems.

However, at least half a dozen other genetic disorders which include two not so common forms of muscular dystrophy have been shown to share the same common mutations in the LMNA gene. Most scientists that are involved in aging in the genetics department usually use the research on the underlying genetics of the progeria prototype in order to discover how the aging process works. Sufferers of Hutchinson-Gilford progeria have a very severe hardening of the arteries or rather severe arteriosclerosis that starts right from childhood. The condition increases terribly, the probabilities of experiencing heart attacks or even strokes at very young ages. These conditions may become life-threatening for certain individuals with this type of syndrome.

Progeria thankfully is very rare and only 1 in 4 million newborns worldwide have been known to suffer from it. Only slightly over 130 cases have been reported and recorded in scientific journals since the first time the genetic disorder was first described in 1886. People with progeria inherit this disorder by one copy of the altered gene in each cell which is small enough to cause the disorder. If a person wants to know if he/she has Hutchinson-Gilford progeria, they have to be diagnosed since before the age of one as progeria is a significantly noticeable disorder and children with progeria do not develop normally and have an average lifespan of only 13 years old, sadly.

How should society deal with these disorders? According to Ashley Hegi (deceased); the society should not judge people who suffer from progeria and they should not stare as people with progeria are no different from others, except that they have very aged looks for their age and bald heads. Societies should also be more aware of this genetic disorder although it is rare for their knowledge so they would know how to handle it and also how to treat a person with progeria. As people with progeria do not have lower intellects than a normal human being, they like to be talked to normally and lead normal lives although sometimes it may be painful to do so. They need a lot of positivity in their lives to encourage them to continue going on despite their disorder and all of its setbacks. As progeria sufferers are known for their bright and sunny dispositions, the people around them should be supportive too and their families should be trained and well learned on how to handle them with care and how to provide good and stable emotional support for them.

What should researchers and society do to help progeria sufferers? They should continue researching for cures for this disorder as little to no drugs can help with this disorder especially that it is such a rare genetic condition. Research should be done on the LMNA gene and also on the protein Lamin A as these two might be clues as to how the aging process happens so rapidly in progeria sufferers. Geneticists should pay more attention to this particular disorder as aforementioned; might be a key to the aging process and all its setbacks including links to cardiovascular diseases and so on. Progeria albeit rare should not be overlooked. 



-The nocturnal one-