Progeria: Senescence and Nuclear Structure Abnormalities

Topics: Senescence, DNA repair, Heart Pages: 3 (720 words) Published: August 22, 2013
Progeria
Progeria is a genetic mutation which causes premature aging in young children. Children born with Progeria appear normal at birth, but 12 months after they begin to show signs and symptoms of aging. Some of the signs that a child has Progeria are loss of hair and they are often smaller in size than normal children. They have abnormally large heads, wrinkled skin, and smaller faces and bone structure. Children diagnosed with Progeria often only have a life expectancy of 13 years, though some have lived until they are 20 years old. Progeria’s full name is Hutchinson-Gilford Progeria Syndrome (HGPS).

There are quite a few symptoms for this progressive disorder that begins to show within the first year of the child’s life. A big sign is slowed growth; they are often smaller and weigh less than average children their age. Their face appears a lot more narrowed and they have a beak like nose, they lose their hair; including eyelashes and eyebrows. They have rather tight and hard skin; which reveals veins, their head appears out of proportion for their face and they have bulging eyes. They also show several signs of age, including heart and bone issues, as well as having smaller lips, a higher-pitched voice, abnormal teeth development and diminished body fat and muscle. Progeria suffers also experience rapid and out of control heartbeats and breathing.

Progeria is caused by a single genetic mutation, which is a mutation in the LMNA gene. The LMNA gene is responsible for the production of lamin A/C, which contains two proteins, lamin A and lamin C which are known to play a key role in stabilizing the cell’s inner membrane. When scientists tested Progeria suffers, they found that an abnormal type of lamin A to be produced. The abnormal protein produced shows to destabilize the cell’s membrane that is harmful to the cells that are put under physical pressure; such as cardiovascular and musculoskeletal systems. Though recently scientists have discovered that...
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