Monday, 20 October 2014

Gaucher Disease

It is an enzyme deficiency hereditary disease that blocks the metabolism of Lipids (a substance in blood), causing Severe Combined Immunodeficiency (SCID). It causes irreparable brain damage and death, particularly in children.
High magnification micrograph of 
Gaucher disease and necrotic bone
Wikimedia Commons by Nephron 


The symptoms include swollen abdomen, build up of fats in tissues, enlargement of spleen and lever,bleeding, and the bones become so brittle that merely the rolling over the bed may fracture them.

To cure it the following steps are taken.

1. The virus is taken from an infected lab mouse.

2. The genetic material in the segment of virus is removed and replaced by enzyme producing human gene.

3. The altered viral particle is placed in a lab dish along with baby’s bone marrow derived cells.

4. Then the two are incubated causing the gene virus to fuse with the DNA of baby cells.

5. Thereafter the gene altered bone marrow cells are transplanted which manufacture the musing enzymes. If enough enzyme making cells are produced, the disease is cured.
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