Thursday, February 5, 2015

Chromosome Self-Destruction Saved This Woman's Life

 A woman living in Ohio had an extremely rare genetic immune disease called WHIM syndrome.  She shares this condition with only about 60 people worldwide.  The disease lowered a certain kind of the woman's white blood cells used to fight an infection that she had frequently as a child.  It isn't fatal, but it may lead to scarring, hearing loss, or different forms of cancer from some of the symptoms.  Researched linked WHIM syndrome to the CXCR4 gene that codes for cell surface protein in immune cells.  Having WHIM will cause this gene to work in overdrive and the white blood cells will get stuck instead of being released into the bloodstream.

The woman, who brought her daughters in to see a doctor at the time, found out that her daughters had contracted the condition as well.  However, the woman was perfectly fine: her white blood cells had no trace of the CXCR4 gene mutation.  How could this be?  Doctors were very interested because there is currently no cure for such a condition.  After many tests and medical investigations, scientists found a copy of chromosome 2 in the woman's white blood cells that was significantly shorter than the other.  This missing chunk of chromosome housed, coincidentally enough, the mutated CXCR4 gene.

Chromothripsis is a phenomenon observed recently in leukemia patients and in some cancer patients.  A fault in cell replication causes a chromosome to shatter itself and rearrange in a different order.  Normally, the scrambled cells die after this happens but if they do survive, it could lead to cancer.  However, the chromosome got scrambled in a blood stem cell which led the production of normal white blood cells.  Doctors who have looked into this said it may be worth looking into if people randomly get cured of their diseases.  Scientists may be able to pinpoint genetic mutations that cause serious illnesses like sickle cell anemia, take the blood stem cells out, modify the CXCR4 gene in the blood stem cells, and replace them into the patient.

This is definitely something I've never heard of.  One would think that the destruction of a chromosome would be very detrimental but apparently it can save lives.  Further research must be done on this but so far, from this article alone, this may be one of the most bizarre ways to cure a genetic mutation.  For the sake of people with life threatening genetic mutations, I hope doctors and scientists somehow find a way to manipulate genes enough to effectively get rid of the mutation altogether.

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