lend me your Kidneys!!!
Single Cypriot ancestor responsible for widespread kidney disease
By Darya Alikhani
Published on August 27, 2010
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A GENETIC mutation in the immune system– dating back to a single common ancestor more than three centuries ago -- leads to chronic kidney disease, which seems to exclusively affect people of Cypriot origin, a study has found.
Further analysis, which does not form part of this study suggests that a minimum of about one in every 6,000 Cypriots has the mutation.
“All the families affected so far are of Cypriot origin and the researchers believe this mutation represents a significant proportion of the kidney disease burden in Cyprus and in Cypriot families worldwide,” according to the article, published in the leading medical journal The Lancet.
The article is by Professor Patrick Maxwell, The Rayne Institute, University College London, UK, and colleagues, and is funded by the UK Medical Research Council and The Wellcome Trust.
In the article, the researchers have identified the disease—which they have named CFHR5 nephropathy—in 28 people from five families. All are of Cypriot descent and some are living in the UK.
Symptoms include blood in the urine—sometimes microscopic, sometimes visible—and progressive kidney malfunction.
Existing guidelines state that, if not accompanied by traces of protein, urinary tract abnormalities or impairment to the kidneys, blood in the urine is considered benign.
But the researchers show in this new study that in certain cases it can signal progressive chronic kidney disease.
The researchers, based in the UK, Cyprus, France, and Spain, identified an inherited kidney disorder caused by the mutation in gene CFHR5.
The authors said their genetic analysis suggests the mutation probably dates back 16 generations to a single ancestor.
"High instance of blood in the urine, the wide geographical distribution of ancestry within Cyprus, and the presence of affected individuals in the UK suggests that this disease will account for a substantial proportion of renal disease affecting inhabitants of the island and their descendants worldwide," the authors said.
They predict that this one mutation could be responsible for between 1.0 and 2.0 per cent of all kidney disease cases in Cypriots.
Further analysis that does not form part of this study suggests that a minimum of about one in every 6,000 Cypriots has the mutation.