Hutchison Gilford And Werner Syndrome example essay topic

Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.

Hutchison-Gilford disorder was first discovered and described by John Hutchison in 1886. However, in 1904 Hastings Gilford named the disorder Progeria after doing some of his own research on it (Malady). Approximately a year after Gilford presented his Progeria research, Otto Werner discovered a disorder by which he called 'inaugural-dissertation'. It was not until about 1935 that Oppenheimer and Kegel named " dissertation" Werner Syndrome (Werner). Progeria is a very rare disorder, affecting one out of eight million children in the Hutchison-Gilford form. Werner Syndrome is more common yet still infrequent, affecting one out of one million children.

Both types of Progeria affect specific; Hutchison-Gilford occurs most frequently in Caucasians, while Werner Syndrome affects mostly children of the Japanese and Sardinian background. This disorder is fatal in both cases, although the life span of one with Werner Syndrome, living to the age of approximately 46, is significantly longer then one with Hutchison-Gilford who will only live to the age of 13 (Werner). Progeria is commonly referred to as 'early aging disease'; however, this disorder has nothing to do with a child aging rapidly. The symptoms of Progeria in both Hutchison-Gilford and Werner are very similar and they do appear to speed the aging process. A child with Hutchison-Gilford has an entirely bald head and face. Their scalp, veins and eyes are clearly more prominent then a child without this disorder.

The child's jaw will appear small and many times, he will be toothless, for Progeria causes delayed tooth formation. In addition, a child will have many cardiovascular problems including heart disease and arterial diseases (Malady). One with Werner Syndrome experiences most of the same physical deformities as one with Hutchison-Gilford; however, with Werner, a child will have subcutaneous calcification (calcium build up), cataracts, gray hair, high-pitched voice, and a very high cancer risk. People with Progeria are very short in stature and have thin limbs, prominent joints, and hip dislocations (Werner). Progeria is a rare disorder; therefore, the transmission of the disease from parent to offspring is not a likely occurrence. However, when the disease is transmitted both mother and father must carry a mutant gene.

If just one parent is carrying a single mutant gene, they will not show any symptoms of Progeria and will not pass it along to their offspring. When both parents carry the gene, their offspring now has a 25% chance of being born with Progeria... Progeria is an recessive disease, which means it is not carried on a sex chromosome. Hutchison-Gilford Progeria is caused by a mutation in Lamin A. Lamin A is a fibrous protein involved in the structure of the nuclear membrane. When there is a mutation in Lamin A it is likely the nucleus loses its normal shape and therefore its function is compromised. As of now, it is known that this is the cause of Progeria itself; however, neither doctors nor scientist can determine what this mutation has to do with the aging-like deformities of Progeria (Kugler).

Although Werner Syndrome is a form of Progeria, it is caused by a different mutation. This type of Progeria is also recessive, and occurs because the in the body are mutated. Heli cases are enzymes responsible for unwinding the double strand of DNA, making duplication of the information possible and allowing mitosis to occur correctly. In Werner Syndrome, it is also unknown how this relates to the aging-like symptoms, yet it is known that the mutation is the cause. Progeria is an unfortunate, fatal disorder with no cure.

Doctors however try their best to sooth Progeria patients, by curing what they can. If a patient suffers from cataracts, it is possible for them to get eye surgery to appease that part of this disorder. In addition, skin grafting can be done, etc. Ultimately, children born with the gene mutations known as Progeria do not live long, whether they suffer from Hutchison-Gilford or Werner Syndrome. Physical appearance and bone structure are both extremely affected within these two types of Progeria making the child's life a generally unpleasant one. If a parent was the carrier of a mutated Lamin A, he could pass it to his offspring, if the other parent also had a mutated Lamin A gene.

It is a recessive trait, and both parents must have one mutated gene to produce a 25% chance of having an infected child. This must be a very tough choice for parents who know there is that one in four chance of having a deformed child. The diseases usually results in an early death, and many parents could not handle burying their child. Progeria has two different types, Hutchison-Gilford and Werner Syndrome. In both cases the child would die at an early age, however if he were born with Werner Syndrome he would live to perhaps 50 years of age as opposed to 13 years old if he were a Hutchison-Gilford sufferer. 97% of the Hutchison-Gilford population are caucasian., while Japanese and Sardinian people make up the Werner victims.

Oddly enough, Werner is more common, but much less well known (Kugler). Progeria is a fatal, unfortunate disease. The fact that deformed children are completely mentally fit, and know they are different is terrible. It must be hard to handle stares, smirks, pointing fingers, and still have to cope with the fact that you will probably not live past fifteen years old.

The public needs to be more educated on this disease, and not treat it as so much of a sick deformation. Infected children may look different, but they are the same as anyone else. There are many organizations around that are collecting money for the furthering of research, and to educate the public. I could never imagine being the parent who has to make a choice of having a possibly mutated baby. Even with the odds in your favor, imagine choosing to have a baby, than discovering he will be born infected and you will outlive your son. Making that choice must be incomprehensibly difficult for both parents involved.

Progeria is a mutation that needs to be dealt with very soon.