Progeria

aka Hutchinson-Gilford progeria disorder

What is progeria?

Hutchinson - Gilford progeria disorder is an extremely scary genetic disorder. Progeria is extremely rare and the fatality rate is 100%, affecting children by advancing aspects of aging in the body.

Genetic Transmission

The LMNA gene gives instructions for making the protein Lamin. Lamin determines the shape of the nucleus in cells. The mutation that causes this is an abnormal version of the Lamin.The mutation makes the surrounding of the cell unstable and damages the nucleus, causing them to die prematurely, which therefore causes the symptoms, and the disorder will take over.

Dominiant or Recessive?

This disorder is autosomal dominant, therefore you would only need to receive the gene from one parent.

Symptoms/Diagnosis/Frequency

Symptoms;

  1. childhood growth being severely advanced at an alarming rate

  2. children appear normal at birth, but then mature extremely slow compared to normal growth in infants, by not gaining weight and not growing

  3. typical facial characteristic include prominent eyes, protruding ears, a thin nose with a beaked tip, thin lips and a small chin.

  4. alopecia (hair loss), aging skin, and joint problems are common as well as loss of fat

  5. symptoms DO NOT INCLUDE any intellectual problems or handicaps in sitting, standing, and walking.

  6. patients experience severe hardening in the arteries (arteriosclerosis)

  7. increased risk of strokes or heart attacks

Frequency:

  • The disorder is extremely rare, only occurring in 1 in 4 million babies worldwide, only 130 cases have been diagnosed since the disease was recognized in 1886

  • not hereditary

Diagnosis:

  • We look for a mutation in the LMNA gene

  • LMNA makes protein that is required to hold together the nuclear membrane

Interesting Facts

* The youngest person to die from Progeria was 3 1/2 years of age.

* Nothing was known about Progeria until about 30 years ago.

*The oldest surviving patient of Progeria

*One indian family had 5 childrent that were diagnosed with Progeria