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Progeria Syndrome
Progeria Syndrome
Hutchinson–
Gilford
progeria
syndrome
Steps in normal cell Steps in cell with progeria
The gene LMNA encodes a
protein called prelamin A.
The gene LMNA encodes a
protein called prelamin A.
Prelamin A has a farnesyl
group attached to its end.
Prelamin A has a farnesyl
group attached to its end.
Farnesyl group is removed from
prelamin A.
Farnesyl group
remains attached to prelamin A.
Normal form is called lamin A.
Abnormal form of prelamin A is
called progerin.
Lamin A is not anchored to the
nuclear rim.
Progerin is anchored to the
nuclear rim.
Normal state of the nucleus. Abnormally shaped nucleus.
• Limited growth, full-body alopecia
• Scleroderma
• wrinkled skin, atherosclerosis, kidney failure,
loss of eyesight, and cardiovascular problems
• narrow face and a beak nose
• small, fragile bodies, like those of elderly
people
• a small face with a shallow recessed jaw, and a
pinched nose
Progeria Syndrome
Progeria Syndrome
http://www.progeriaresearch.org/index.html
Progeria Syndrome
http://en.wikipedia.org/wiki/Progeria
http://www.adaliarose.com
http://www.medpagetoday.com/celeb
ritydiagnosis/42315
Sources
Progeria Syndrome

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Progeria Syndrome

Editor's Notes

  1. extremely rare genetic disorder (occur in 1 in 4 million newborns worldwide) At a very early age, children show aging symptoms genetic condition that occurs as a new mutation, and is rarely inherited, as patients usually do not live to reproduce
  2. Mutation of LMNA gene in nucleus
  3. Prominent scalp veins are noticeable
  4. 6 years old, from Texas.
  5. Lonafarnib, a type of farnesyltransferase inhibitor (FTI) 
  6. Sam Berns – HBO Documentary ‘Life According to Sam’