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PROGERIA

PROGERIA. By: Monica Cruz. How it occurs. Mutation in the gene that encodes LMNA (produces lamin A protein /imp. in the membrane) Lamin A- known as a filament protein and a fibrous protein . It provides stability and strength to cells in the nucleus.

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PROGERIA

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  1. PROGERIA By: Monica Cruz

  2. How it occurs • Mutation in the gene that encodes LMNA (produces lamin A protein /imp. in the membrane) • Lamin A-known as a filament protein and a fibrous protein . It provides stability and strength to cells in the nucleus. • Out of 664 amino acids coding for this protein only 50 do during mutation. • When there's something wrong with this protein it makes nucleus unstable. Lamin A mutation

  3. Background Info. • Known as Hutchinson-Gilford Progeria Syndrome (HGPS) • Progeria is a genetic disorder that causes children to age rapidly, beginning in their first two years of life. • The name is Greek and means “ prematurely old.“ • single dominant allele • It effects 1 in 8 million newborns worldwide • The condition is rare/ Genetic disorder

  4. more info. • since 1886, only about 130 cases have been found. • A Progeria body ages about 10 times faster than normal • first described in England in 1886 by Dr. Jonathan Hutchinson. • Dr. Hastings Gilford studied the disorder in 1904 • Usually die b/c of a heart attack or stroke • live only up to 13 years

  5. Diagnosis • The diagnosis is made during the first or second year with symptoms that include skin changes and failure to gain weight. • It is also found that Progeria patients may have the chemical hyaluronic acid found in their urine. • Hyaluronic acid – helps regulate the cell growth and it’s a type of polysaccharide • Prenatal testing for progeria is possible using amniocentesis. Then the fetal DNA is examined for genetic abnormalities.

  6. Treatments • There's no cure • Cardiac care ,nutritional, and physical therapy. • low dosage of aspirin is used as an attempt to delay atherosclerosis • Atherosclerosis- blood vessel walls thicken

  7. Blibliography • www.progeriaresearch.org • www.medicalnewstoday.com/articles/ • www.mayoclinic.com/health/progeria/ • www.rareglobaldiseases.com/progeria_history.php

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