Question

What is progeria? How is it caused?

Answer 1

Progeria leads to extreme premature aging and affects many different body systems. The symptoms begin within a year of life with poor growth and weight gain. Children with Progeria have a characteristic facial appearance with a large head, small mouth and chin, narrow nose and large eyes. Other symptoms include baldness, loss of fat under the skin, and dental and joint abnormalities. They also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive heart disease. Intelligence is typically normal. Progeria is caused by a genetic variant in the LMNA gene. This variant usually arises as a new change in the genetic material and is not inherited from a parent. Diagnosis is based on the symptoms, clinical exam, and may be confirmed by the results of genetic testing.

Answer 2

Answer: Progeria is an extremely rare genetic disorder that causes children to age rapidly, beginning at only one or two years old. Aging symptoms typically develop until cardiovascular or cerebrovascular problems become fatal. This disorder is caused by a single mutation where the DNA produces progerin protein instead of Lamin A protein to hold the nucleus together. The National Library of Medicine states that progeria affects about 1 in 20 million people worldwide.

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