Scientists identify genetic abnormality that can increase blood disorders risk

March 16th, 2009 - 2:49 pm ICT by ANI  

London, Mar 16 (ANI): For the first time, scientists have identified a common genetic sequence abnormality that can increase the risk of certain blood disorders.

Researchers at Memorial Sloan-Kettering Cancer Center (MSKCC) have shown that the genetic abnormality can enhance the likelihood of acquiring a mutation in a gene linked to certain blood diseases.

For their research, they carried out a genome-wide study to identify inherited DNA sequence changes that frequently occur in patients with myeloproliferative neoplasms, in which several types of blood cells are excessively produced in the bone marrow.

They found that an inherited alteration in the gene for JAK2 a protein with enzymatic activity that is linked to the abnormal production of blood cells was more common in patients with such disorders.

Also, they pointed out that patients who inherited the JAK2 alteration were predisposed to acquiring another JAK2 mutation on the same DNA strand.

The research suggests that these mutations do not arise randomly, but are specifically determined by the DNA sequence.

Over 50 percent of patients afflicted with myeloproliferative neoplasms carry the JAK2 mutation, and suffer from the overproduction of red blood cells, platelets or fibrous connective tissue.

The authors said that understanding the underlying inherited sequence partly explains the predisposition for acquiring mutations in certain disease-specific genes.

And the findings could also explain why some individuals are at higher risk in developing the disease.

The study has been published online in Nature Genetics. (ANI)

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