Miracle cure of genetic disorder by mutation event

9 February 2015

An unusual case has been reported of a rare disease patient being cured by a spontaneous genetic mutation in what has been dubbed a ‘miracle cure’.

The woman in question suffered from WHIM syndrome, a rare genetic immunodeficiency disorder that prevents release of immune cells from the bone marrow. It is caused by a mutation in the chemokine receptor gene CXCR4 and results in extreme susceptibility to infection, especially from forms of Human Papilloma Virus (HPV) and their associated conditions, including some cancers.

Writing in the scientific journal Cell, doctors report that a rare cellular event known as chromothripsis or ‘chromosome shattering’ – previously implicated in cancer – effectively cured the patient. The disease-linked mutation was deleted by the massive chromosomal rearrangement event, and because this took place in a hematopoietic stem cell (HSC), which gives rise to the specialised immune blood cells, it led to repopulation of the patient’s blood system with functional immune cells. This in turn created normal immune protection against infection and a cessation of symptoms.

Dr Philip Murphy of the US National Institute of Allergy and Infectious Diseases told BBC News: "It is really kind of remarkable, she started out as this very unlucky girl and ended up winning the lottery by having this incredibly rare event, the only one reported in the world to date”.

The exact mechanisms leading from the chromosomal deletion event (which affected 164 genes) remain unclear, but researchers say in provides valuable biological insights and possible avenues to develop therapies for other patients. This would be of particular value to the patient – not for her own sake but that of the two daughters who have inherited the mutation and the disease, without the spontaneous mutation ‘rescue’ event.

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