Featured Research

from universities, journals, and other organizations

Genetic Abnormality May Increase Risk Of Blood Disorders

Date:
March 17, 2009
Source:
Memorial Sloan-Kettering Cancer Center
Summary:
Researchers have shown for the first time that a tendency to develop some blood disorders may be inherited. Their research identifies a common genetic sequence abnormality that enhances the likelihood of acquiring a mutation in a gene linked to certain blood diseases.

Researchers at Memorial Sloan-Kettering Cancer Center (MSKCC) have shown for the first time that a tendency to develop some blood disorders may be inherited. Their research, published online in Nature Genetics, identifies a common genetic sequence abnormality that enhances the likelihood of acquiring a mutation in a gene linked to certain blood diseases.

Related Articles


The investigators 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 – is more common in patients with these disorders. Importantly, patients who inherited this JAK2 alteration were predisposed to acquiring another JAK2 mutation on the same DNA strand. According to the research, these mutations do not arise randomly, but are specifically determined by the DNA sequence.

More than half of patients afflicted with myeloproliferative neoplasms – which affect an estimated 140,000 people in the US – carry the JAK2 mutation and suffer from the overproduction of red blood cells, platelets, or fibrous connective tissue. According to the authors, 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 the disease.

The co-senior authors of the study are Ross Levine, MD, medical oncologist, Leukemia Service and assistant member, Human Oncology and Pathogenesis Program, MSKCC and Robert Klein, PhD, computational biologist and assistant member, Cancer Biology and Genetics Program, MSKCC.


Story Source:

The above story is based on materials provided by Memorial Sloan-Kettering Cancer Center. Note: Materials may be edited for content and length.


Journal Reference:

  1. Kilpivaara et al. A germline JAK2 SNP is associated with predisposition to the development of JAK2V617F-positive myeloproliferative neoplasms. Nature Genetics, March 15, 2009; DOI: 10.1038/ng.342

Cite This Page:

Memorial Sloan-Kettering Cancer Center. "Genetic Abnormality May Increase Risk Of Blood Disorders." ScienceDaily. ScienceDaily, 17 March 2009. <www.sciencedaily.com/releases/2009/03/090315155102.htm>.
Memorial Sloan-Kettering Cancer Center. (2009, March 17). Genetic Abnormality May Increase Risk Of Blood Disorders. ScienceDaily. Retrieved March 1, 2015 from www.sciencedaily.com/releases/2009/03/090315155102.htm
Memorial Sloan-Kettering Cancer Center. "Genetic Abnormality May Increase Risk Of Blood Disorders." ScienceDaily. www.sciencedaily.com/releases/2009/03/090315155102.htm (accessed March 1, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Sunday, March 1, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Rehab Robot Helps Restore Damaged Muscles and Nerves

Rehab Robot Helps Restore Damaged Muscles and Nerves

Reuters - Innovations Video Online (Mar. 1, 2015) A rehabilitation robot prototype to help restore deteriorated nerves and muscles using electromyography and computer games. Ben Gruber reports. Video provided by Reuters
Powered by NewsLook.com
Could a $34 Smartphone Device Improve HIV Diagnosis in Africa?

Could a $34 Smartphone Device Improve HIV Diagnosis in Africa?

Reuters - Innovations Video Online (Feb. 27, 2015) A dongle that plugs into a Smartphone mimics a lab-based blood test for HIV and syphilis and can detect the diseases in 15 minutes, say researchers. Tara Cleary reports. Video provided by Reuters
Powered by NewsLook.com
Doctor Says Head Transplants Possible Within Two Years

Doctor Says Head Transplants Possible Within Two Years

Buzz60 (Feb. 27, 2015) An Italian doctor is saying he could stick someone&apos;s head onto someone else&apos;s body. Patrick Jones (@Patrick_E_Jones) reports. Video provided by Buzz60
Powered by NewsLook.com
How Your Dentist Could Help Screen You For Diabetes

How Your Dentist Could Help Screen You For Diabetes

Newsy (Feb. 27, 2015) A new study from researchers at New York University suggests dentists could soon use blood samples taken from patients&apos; mouths to test for diabetes. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins