Research and Knowledge Known about the Hutchinson-Gilford Progeria Syndrome

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Hutchinson-Gilford Progeria Syndrome is a rare dominant genetic disease. This disease is caused by a point mutation in the LMNA gene where the gene C is mutated to a T resulting in production of an abnormal protein instead of Lamin-A. Lamin-A plays a critical role in determining the shape of genes within the nucleus within cells as well as being an essential structural component to the nuclear envelope. The basic structural shape of the genes within the cells is normally controlled by the shape and fit of proteins designed to fit together perfectly. After the negative effect of the gene mutation, the proteins within the gene become stacked awkwardly and do not fit together properly. The abnormal protein Lamin-A is known as the protein progerin. Progerin acts as an imposter by sticking where normal protein should be and causes toxicity to the body resulting in a domino effect of several other diseases and symptoms. Progeria is an extremely rare disease affecting only about 1 in 4 million babies born worldwide. According to the Progeria Research Foundation’s website, there are currently 105 known cases in 38 countries worldwide. Since this disease is a sporadic autosomal dominant condition only one copy of the mutated gene is sufficient to cause the disorder. Progeria occurs mostly in people with no history of the disorder. Gene mutations know neither race nor sex, therefore this disease non-bias to race or sex and will occur with equal likelihood across all nationalities. The likely reason that this disease is so rare is because the gene cannot be passed on due to young age that this disease fatally attacks. Pre-symptom tests are available, however due to the rarity of the disease and sporadic nature of its occurrence, pre-symptom ... ... middle of paper ... ...Progeria, heart disease and aging. PRF has its own Cell and Tissue Bank that provides the biological materials researchers need to conduct their experiments. Additionally, PRF has established a Medical and Research Database to supply physicians and families with medical recommendations for cardiac care, nutrition and other medical issues to help children and adults with Progeria have a better quality of life. In April 2010, PRF published The Progeria Handbook for families and doctors. From basic health facts to daily care recommendations to extensive treatment guidelines, the handbook helps answer many questions for people suffering from Progeria throughout the world. Supporting research foundations like PRF will lead to a cure for Progeria and may provide keys for treating millions of adults with heart disease and stroke associated with the natural aging process.

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