Progeria Brenna Atwater Period 3

HGPS is caused by a mutation in the gene called LMNA. The LMNA gene produces the lamin A protein which is the structural scaffolding that holds the nucleus of a cell together. The abnormal lamin A protein that causes Progeria is called progerin. Progerin makes the nucleus unstable

Some of the characteristics that come with Progeria is short stature, slow growth, or underdeveloped jaw, wrinkles or dryness, hair loss, delayed tooth development, enlarged head, hearing loss, high-pitched voice, incomplete sexual maturation, joint stiffness, loss of muscle, osteoarthritis, or taut skin

A genetic test for Hutchinson-Gilford progeria syndrome, also called HGPS, is currently available. In the past, doctors had to base a diagnosis of progeria solely on physical symptoms, such as skin changes and a failure to gain weight, that were not fully apparent until a child's first or second year of life.

There is no cure for Progeria but treatment can help. Some of the treatments are occupational therapy, physical therapy, some medications, hearing aids, tooth extraction, and many more.

Progeria is usually not passed down from generations. The gene change is almost always a chance occurrence that is extremely rare. Children with other types of “progeroid” syndromes which are not HGPS may have diseases that are passed down in families.

Citations: www.progeriaresearch.org

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