[2015] Jullia Dorado: Progeria

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by sdoucette
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[2015] Jullia Dorado: Progeria

Farnesyltransferase inhibitors (FTIs), currently being used for treating cancer, might reverse the nuclear structure abnormalities that are believed to cause Progeria. YAY!

Progeria is an extremely rare, fatal, genetic disorder that causes children to age prematurely (rapidly age) at around the age of one.

Dr. Jonathan Hutchinson first discovered the disease in 1886, and Dr. Hastings Gilford who did the same in 1904.

Progeria appears to affect children of all races equally. Over the last 15 years the following countries have had reported cases - Algeria, Argentina, Australia, Austria, Canada, China, Cuba, England, France, Germany, Israel, Italy, Mexico, the Netherlands, Poland, Puerto Rico, South Africa, South America, South Korea, Switzerland, Turkey, the US, Venezuela, Vietnam and Yugoslavia.

Progeria is caused by a mutation on the LMNA gene. The mutation is usually sporadic, and it is during the cell division in a newly conceived zygote or in the gametes of one of the parents.

A child with Progeria is normal when they are born but then start to show signs of this disorder in their first year of growing. Progeria causes a bigger head, large eyes, small lower jaw, thin nose with a "beaked" tip, ears that stick out, veins you can see, slow and abnormal tooth growth, a high-pitched voice, loss of body fat and muscle, and hair loss including eyelashes and eyebrows. A child with Progeria is normal when they are born but then start to show signs of this disorder in their first year of growing. Progeria causes a bigger head, large eyes, small lower jaw, thin nose with a "beaked" tip, ears that stick out, veins you can see, slow and abnormal tooth growth, a high-pitched voice, loss of body fat and muscle, and hair loss including eyelashes and eyebrows.

◾Growth failure◾Loss of body fat◾Loss of hair◾Skin starts to look aged◾Stiffness in the joints◾Hip dislocation◾Generalized atherosclerosis (cardio and heart disease) ◾Stroke

PROGERIA

A child with Progeria is normal when they are born but then start to show signs of this disorder in their first year of growing. Progeria causes a bigger head, large eyes, small lower jaw, thin nose with a "beaked" tip, ears that stick out, veins you can see, slow and abnormal tooth growth, a high-pitched voice, loss of body fat and muscle, and hair loss including eyelashes and eyebrows.

CAUSE

TREAT-MeNT

SUPPORT

EFFECT

DIAGNOSIS

HISTORY

PREVENTION

The word Progeria comes from the Greek progeros meaning prematurely old. The Greek word pro means before, while the word geras means old age.

FACT


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