Progeria is a genetical disorder that is very rare and is estimated to occur in every one out of eight million live births. The disease is also known as Hutchinson–Gilford Progeria Syndrome (Gilford & Shepherd, 1904). The condition is in rare cases inherited since its victims usually die before puberty. Usually the disease occurs through mutation. The disease manifests itself through extremely early aging where the victims develop symptoms that resemble features of aged people while still infants (Sadeghi-Nejad & Demmer, 2007). The disease’s name actually derived from Latin meaning `aging before time’
Progeria is sometimes used as an umbrella term for all diseases whose symptoms include premature aging. Continued research has linked the factors of normal aging with progeria. As such, the disease has been extensively researched by scientists as finding its cure would also find a solution to the aging process.
Various scientists have undertaken extensive research on progeria. Jonathan Hutchinson is credited with being the first to describe the condition in 1886. Hastings Gilford also described the syndrome independently in 1897.
For the research paper, secondary sources were solely used. Several relevant medical journals and books were used. Information regarding the disease was extracted and used in the research paper.
Children suffering from progeria develop the first symptoms which include abnormal hardening of the skin and failure to grow vigorously during infancy. As the child continues to age, more symptoms appear usually between the ages of 18-24 months. Such symptoms include limited growth loss of all bodily hair, and development of a distinctive appearance characterized by a small face and a pinched nose. Skin wrinkles appear later and loss of eyesight, kidney failure and, in some cases, cardiovascular problems appear. The disease is progressive and tends to worsen with the aging of the child. People suffering from this disorder have the appearance resembling those of elderly people with small bodies, heads that are large in relation to the body size with wrinkled faces and beak noses on very narrow faces. Due to the hair loss, scalp veins are prominently noticeable. The musculoskeletal degeneration caused by the condition leads to stiff joints and hip dislocations. However Individuals suffering from the condition have normal mental development. The disease does not affect motor development also.
The disease results from the faulty encoding of the protein prelamin A by the gene LMNA. In a normal cell, the Farnesyl group usually attached to prelamin A is usually removed from the protein (Hennekam, 2006). However in progeria, the Farnesyl group remains attached to prelamin A leading to the formation of abnormal Prelamin A, also called progerin. Progerin is usually formed when the nucleic acid cytosine with thymine. Normal prelamin A does not join the nuclear rim but abnormal prelamin A anchors to the nuclear rim. This leads to the formation of a nucleus with an abnormal shape. When this occurs, progeria occurs. Progerin further leads to the formation of an abnormal lamin A in place of the normal lamin A. Since lamin A is an important component of the nucleus’ nuclear lamina, the structure of the nucleus is foiled. The ability of the cell to divide is seriously limited leading to the patients’ characteristic slow growth. Progerin is associated with the aging process and hence the aging symptoms in the patients. The disease is diagnosed through genetic tests for mutations of LMNA on individuals exhibiting symptoms such as hair loss, wrinkling of the skin and stunted growth (Hennekam, 2006). The evidence of such mutation then confirms progeria.
As at now, there is no known cure for the disease (Gorlin, Cohen & Hennekam, 2001). The medical treatment given to the victims aims only at reducing the complications emanating from the disease. Such complications include cardiovascular disease for which progeria patients are given an aspirin dose or heart bypass surgery. It is also important to give children suffering from the disease a special diet that is high in calories and low in protein (Merideth, Gordon & Clauss, 2008). Morpholinos have also been tried in the attempt to limit the production of progerin. Farnesyltransfarese inhibitors (FTIs) which are mostly used for cancer prevention have been experimented since their working is based on limiting progerin. However, they are still being tested on animals and their use one the human progeria victims has not been approved as at yet. If approved, FTIs may bring a sigh of relief to the progeria patients worldwide.
Pravastatin is another drug that researchers are working on (Korf, 2008). The drug aims at preventing the formation of farnesyl groups. The groups are not essential for the normal functioning of the body and hence are dispensable. Without farnesyl groups, there can be no abnormal prelamin A formation. The drug goes under the shelf names of Selektine and pravachol. Zoledronate which is traded as Zometa also functions the same way as pravastatin. Both pravastatin and zoleprogeria dronata have been approved for use by human beings but not as progeria treatment. The former is used for cholesterol decrease in the body and the latter for hypercalcemia prevention.
Studies carried out between 2004 and 2008 have shown that Rapamycin,a macrolide can be used in the minimisation of the physical symptoms of the disease However, the treatment using Rapamycin has many side effects but on the aggregate it is believed to be beneficial to progeria patients.
Being practically incurable, most patients die before the age of 13 (Merideth, Gordon & Clauss, 2008). At least 90% of these deaths result from atherosclerosis- related complications especially heart attack and stroke (Roach & Miller, 2004). Statistics carried on patients on their mental development revealed very interesting results. Not only doesn’t the disease severely affect the development, but their mental development was far above average. Whether there is link between this and the disease or if this is just a compensation of nature, no one knows. The aging process is between eight and ten times as fast as the normal rate. The disease, contrary to common belief, does not predispose its patients to either cancer or neurodegeneration (Merideth, Gordon & Clauss, 2008). The patients also do not suffer is not adversely affected; in fact, intelligence tends to be above average. With respect to the from the aging conditions that come about as a result of wear like cataracts that from exposure to ultraviolet rays and those caused by wear such as osteoarthritis.
Although no successful treatments for progeria have been developed treatments for arthritic, cardiovascular and respiratory problems it causes exists.
With an occurrence of 1 in 4 million births, the Netherlands leads in the number and rate of birth of progeria patients (Roach & Miller, 2004). Currently, about 80 known cases of the disease exist in the whole world. There have been at least two cases of carriers reported. At least 140 cases have been alluded to in the medical history. There are no demographical factors associated with the disease and researchers have reached a conclusion that the occurrence of the disease is sporadic (Korf, 2008). However, in India, the disease has occurred to five siblings. There is also a similar incidence in Belgium where a family has to children suffering from progeria. There is only one case of a black African suffering from the disease that occurred with the birth of Ontlametse Phalatsein 1999.
Progeria remains a rare medical condition. However, it should not be ignored as the rate of birth of the children suffering from the same is on the rise. The discovery of its cure may actually be the discovery of the mythical fountain of the youth. The disease remains unpreventable as it is caused by sporadic gene mutations. The featuring of patients of the disease in various films is proof enough that the world is slowly acknowledging that there are progeria patients in the society.