Progeria Report Essay

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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 …show more content…

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).

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