Hutchison-Gilford Disorder

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 Kugel named "innaugaral 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 ethnicities; 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 autosomal 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 autosomal recessive, and occurs because the helicases in the body are mutated. Helicases 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 helicases mutation is the cause.

Progeria