A common genetic sequence abnormality that enhances the likelihood of acquiring a mutation in a gene linked to blood diseases has been identified, according to three studies published online in Nature Genetics.
Nicholas Cross, Robert Kralovics, and Ross Levine carried out independent case-control studies to identify a collection of mutations that occur in the JAK2 gene, that do not arise from random mutagenesis but rather are specifically determined by the DNA sequence. JAK2 is a protein with enzymatic activity that is linked to the abnormal production of several types of blood cells, called myeloproliferative neoplasms, found in patients with who suffer from this disorder.
Myeloproliferative neoplasms arise from the bone marrow and over 50% of patients afflicted with this blood disorder carry the JAK2 mutation and suffer from the overproduction of red blood cells, platelets, or fibrous connective tissue. Understanding the underlying inherited sequence partly explains the predisposition for acquiring mutations in certain disease-specific genes and may help explain why some individuals are at higher risk in developing a disease.
Nicholas Cross (University of Southampton, UK)
Robert Kralovics (Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria)
Ross Levine (Memorial Sloan-Kettering Cancer Center, New York, NY, USA)
Abstracts available online:
Abstract of Paper 1.
Abstract of Paper 2.
Abstract of Paper 3.
(C) Nature Genetics press release.
Message posted by: Trevor M. D'Souza
Bookmark and Share this page (what is this?)
Social bookmarking allows users to save and categorise a personal collection of bookmarks and share them with others. This is different to using your own browser bookmarks which are available using the menus within your web browser.
Use the links below to share this article on the social bookmarking site of your choice.
Read more about social bookmarking at Wikipedia - Social Bookmarking