Scientists identify genetic abnormality that can increase blood disorders riskMarch 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)
- Scientists complete whole-exome sequencing of skin cancer - Apr 16, 2011
- Chhattisgarh to screen students for sickle cell anaemia - Apr 06, 2011
- Mouse genome offers human cancer clue - Mar 24, 2011
- Genetic sequencing alone 'is not enough' to understand human disease - Jan 24, 2011
- How sickle haemoglobin protects against malaria - Apr 29, 2011
- Baby's genome lurks in mother's blood: Study - Dec 09, 2010
- Scientists identify gene behind rare brain disorder - May 09, 2011
- New study sheds light on the causes of high blood pressure - Feb 11, 2011
- Stem cells from patients could help test cardiac disease treatments - Jan 18, 2011
- Gene discovery could shed light on foetal, childhood growth retardation - Mar 06, 2011
- Blame defective gene for malformed faces - Jul 06, 2012
- Patient's own cells 'can be reprogrammed to correct genetic defects' - Apr 05, 2011
- Gene that can influence a person's risk for developing epilepsy identified - Apr 05, 2011
- Full genetic blueprint of blood cancer offers new insights - Mar 24, 2011
- Schizophrenia genes linked to brain signalling - May 11, 2010
Tags: blood diseases, blood disorders, dna sequence, dna strand, enzymatic activity, fibrous connective tissue, genetic abnormality, genetic sequence, jak2 mutation, kettering cancer center, memorial sloan kettering, memorial sloan kettering cancer center, nature genetics, production of blood, red blood cells, sequence changes, sloan kettering cancer, sloan kettering cancer center, time scientists, types of blood cells