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Anglo-French team discover elusive gene that makes platelets gray
Date:7/25/2011

omboGenomics initiative.

The scientists observed that other members from the same family of BEACH proteins are implicated in other rare inherited disorders. Their findings showed that LYST protein did not function well in Chediak-Higashi syndrome, another rare but severe disorder paralysing the immune system but also causing a mild platelet bleeding disorder. As a result, a picture is emerging that BEACH proteins are essential in the way granules in blood cells and brain cells are formed or retained showing that in platelets the BEACH proteins are essential for both alpha and dense granules.

"Our discovery that another member of the family of BEACH proteins is underlying a rare but severe granule disorder in platelets firmly nails down the important role of this class of proteins in granule biology," said Cornelis Albers, a British Heart Foundation research fellow at the Sanger Institute and the University of Cambridge. "The reasons why the platelets of patients with Gray Platelet Syndrome are gray is because they lack alpha granules. The alpha granules carry the cargo of proteins that induce vessel wall repair and also form the platelet plug.

"A better understanding of how these granules are formed and how their timely release by the platelet is coordinated at the molecular level may one day underpin the development of a new class of safer anti-platelet drugs for use in patients with heart attacks and stroke. It has been a fascinating journey to identify a new and important pathway by combining the rapid advances in sequencing technology with computational analysis."

The French collaboration was led by Dr Paquita Nurden who set up the Network for Rare Platelet Disorders at the Laboratoire d'Hmatologie, Hopital Xavier Arnozan close to Bordeaux. Their team made the Heruclian effort to find the French families affected by this rare disorder.

"We have worked for years to identify the families across France that suffer
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Contact: Don Powell
press.office@sanger.ac.uk
Wellcome Trust Sanger Institute
Source:Eurekalert

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