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Progeria Informative Speech

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Submitted By mochy391
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Progeria

Intro

What is progeria?

I. The name progeria stems from the Latin and Greek words pro and geraios and means literally, 'early old age'. The disease is also known as the Hutchinson-Gilford syndrome, after the physicians who first described it, Hutchinson in 1886 and Gilford in 1904. Children with progeria usually have a normal appearance in early infancy. At 9 to 24 months of age, affected children begin to experience profound growth delays, resulting in short height and low weight. They also develop a distinctive facial appearance characterized by a disproportionately small face in comparison to the head; an underdeveloped jaw; malformation and crowding of the teeth; a small nose; prominent eyes and a subtle blueness around the mouth. In addition, by the second year of life, alopecia develops, and the scalp hair may be replaced by small, downy, white or blond hairs. Additional characteristic features include generalized atherosclerosis, cardiovascular disease and stroke, hip dislocations, unusually bulging veins of the scalp, loss of the layer of fat beneath the skin, defects of the nails, joint stiffness, skeletal defects, and/or other abnormalities. According to Steve Roach, author of Neurocutaneous disorders, individuals with HGPS develop premature, widespread thickening and loss of elasticity of artery walls, which result in life-threatening complications during childhood, adolescence, or early adulthood. Children with progeria die of heart disease at an average age of 13 years, but some live till their early twenties. As with any person suffering from heart disease, the common events as heart disease advances for children with progeria can include high blood pressure, strokes, angina, enlarged heart, and heart failure, all conditions associated with aging.

What causes progeria & its Effects

II. Progeria is caused by a mutation of the gene LMNA, or lamin A. The lamin A protein is the barrier that holds the nucleus of a cell together. Researchers believe that the defective lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in progeria. Although children with Progeria age in body at an accelerated pace in mind they accelerate at a normal pace. In mind they are as vibrant and full of energy as any other child their age. This is because the brain cells do not express the LMNA; therefore the gene mutation does not affect the brain. World-wide approximately 36 people are known to have this disease. Following the first description of the disease in 1886, approximately one hundred cases have been registered. According to National Organization of Rare Diseases, the incidence is estimated at 1 in 10 million births for the annual number of new cases, equally spread over all parts of the world and irrespective of race gender. Children with progeria have a remarkably similar appearance, despite differing ethnic backgrounds.

II. Symptoms
a. an underdeveloped jaw;
b. malformation and crowding of the teeth
c. a small nose; prominent eyes and a subtle blueness around the mouth.
d. Alopecia
e. atherosclerosis,
f. cardiovascular disease and stroke,
g. hip dislocations, unusually bulging veins of the scalp,
h. loss of the layer of fat beneath the skin, defects of the nails, joint stiffness, skeletal defects.
Treatments

III. Currently there is no cure for Progeria. Only the symptoms can be treated.
All of the drugs discussed affect the progerin protein in order to prevent it from affecting the cells of Progerian patients. They all essentially affect the process in which the cell makes the farnesyl group and attaches it to the progerin protein. REMEMBER: If the farnesyl group is not attached to the progerin protein than it will not be able to damage the cell therefore because the cells are not damaged the process of accelerated aging will not occur.

Conclusion

Bibliography
E. Steve Roach, Neurocutaneous disorders. 2004 Cambridge University Press
National Organization of Rare Diseases, www.rarediseases.org

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