Tracing sickle cell back to one child, 7,300 years ago

                                New research suggests that the history of sickle-cell disease goes back to a mutation in just one person, a development researchers hope will make treatment less complicated for the many people who suffer from this painful illness. So how have they traced it and why does it matter?

The story of sickle-cell disease is, first and foremost, a study in how a good thing can come with bad consequences.

Once upon a time in what is now the Sahara desert, a child was born with heightened immunity to malaria - important because at the time, this part of Africa was wet and rainy and covered with forest.

It was a great habitat for mosquitoes, which carry malaria, a disease that these days kills one child every two minutes.

With a better chance against an illness that was a major killer, then as now, this child with the genetic mutation lived and had children, and those children spread out, all bolstered with extra defences against malaria and living for longer, and their descendants around the world still have those extra defences today, more than 250 generations later.

But here's where the bad consequences come in.

If both your parents have that gene mutation, you can end up with sickle cell disease, which brings severe pain and other complications to its patients. These include shortness of breath, strokes and vision problems.

And people who inherit the gene from both parents do not have its protection against malaria.

In a study published on Thursday in the American Journal of Human Genetics, Daniel Shriner and Charles Rotimi from the Center for Research on Genomics and Global Health presented findings from analysing the genomes of nearly 3,000 people, 156 of whom had sickle cell. The researchers say they traced the mutation back for 7,300 years, and found it started with just one child.

Why does this matter? It helps with classification, Dr Rotimi says. He tells the BBC that it will give doctors "a better understanding of how to classify sickle patients in terms of disease severity".

Source: BBC
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Author: Narh Ebenezer Albidar


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