Spontaneous DNA mutation causes miracle cure

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It's a medical miracle. A woman who had been suffering from an extremely rare disease for 50 years has experienced a spontaneous cure as a result of changes in her DNA. Doctors described the chances of such an event as "astronomically low" and the equivalent of winning the top lottery prize.

The lucky lady is now 58 and her identity is unknown. Before her sudden cure she had a condition known as "WHIM syndrome" which caused serious outbreaks of warts and infections. WHIM syndrome is a rare immunodeficiency disorder.

WHIM is an acronym derived from the main features of the condition - Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (retention of neutrophils in the bone marrow). It usually presents in early childhood.

Recurrent bacterial infections and cellulitis are common symptoms. Sufferers frequently develop widespread warts that are treatment resistant. In extreme cases potentially cancerous genital warts can occur.

Doctors believe WHIM syndrome is an inherited condition caused by mutations in the CXCR4 gene. Early diagnosis is essential. Treatments include G-CSF (which stimulates the production of neutrophils); intravenous immunoglobulins; prophylactic antibiotics to prevent infection; and continued surveillance of the patient for skin lesions.

The syndrome arises when patients have a defect in a tiny section of their DNA. As a result, any new immune system cells forming in the bone marrow remain there instead of circulating in the body. This opens a patient with WHIM syndrome up to serious risk of infection and sufferers are especially vulnerable to the human papillomavirus (HPV) which not only causes warts but leads to higher incidence of cancer.

According to the BBC, the 58 year old shocked a team of researchers at the US National Institute of Allergy and Infectious Diseases when she told them that her warts had spontaneously vanished 20 years ago. One of the Institute's researchers, Doctor Philip Murphy, decided to investigate further. His tests revealed that the cure could be traced back to an event called "chromosomal shattering".

A mutation had occurred in a single bone marrow cell. The woman lost 164 genes from her DNA. But the real "miracle" was that among those lost genes was the rogue gene that had caused WHIM syndrome in the first place and that the mutation was in a stem cell that produces immune cells.

From that single event the patient's ability to create and release immune cells from the bone marrow was eventually restored. There is no evidence from anywhere in the world of any other cases of such spontaneous DNA mutation causing a cure. Her warts and susceptibility to infection have disappeared.

Doctors now hope that this discovery will lead to a better understanding of the way WHIM syndrome works and that, as a result, new treatments could be found. For WHIM sufferers, who have always had to face the likelihood that theirs is an incurable, lifelong, and debilitating condition, this has to be great, if cautious, good news.

Further research will now build on these findings and will also look at what part, if any, the other 163 mutated genes played in the process of recovery.

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