Navigation Links
Boffin Identifies Gene Causing Otosclerosis

A new study has identified a gene responsible for otosclerosis - the single most common cause of hearing loss among white adults .

Melissa Thys, from the Department of Medical Genetics, University of Antwerp, Belgium, said that this finding may be a step towards new treatments for otosclerosis, which affects approximately 1 in 250 people.

Otosclerosis is a multifactorial disease, caused by an interaction of genetic and environmental factors. The outcome is a progressive hearing loss as the growing bone in the middle ear interrupts the sound waves passing to the inner ear. While the causative factors remain unknown, now one of the genetic components has been identified.

"The gene in which the variant is located points to a pathway that contributes to the disease. This may be a lead for better forms of treatment in the future; currently the best option is an operation. However, there is often an additional component of hearing loss which can't be restored by surgery," Thys said.

As the gene involved is a growth factor, and the disease manifests itself by the abnormal growth of bone in the middle ear, it may have a large potential for therapy", she added. Thys and her team decided to study a gene called TGBF1 which they already knew had non-genetic indications of involvement in otosclerosis: it plays a role during embryonic development of the ear and is expressed in otosclerotic bone.

They used SNP (single nucleotide polymorphism) analysis, or looking at DNA sequence variations occurring in a single nucleotide, A, T, C or G, to study a large patient and control population from Belgium and The Netherlands. They found significant results for an amino acid changing SNP inTGBF1, and that this remained significant after correcting for multiple testing. Analysis of a large French group showed the same association.

"Combining the data from both groups with a common odds ratio gave a very signific ant result, from which we were able to conclude that we were the first to identify a gene that influences the susceptibility for otosclerosis", said Thys.

"And, as further evidence, we were also able to show that a more active variant of this gene is protective against the disease," she added.


'"/>




Related medicine news :

1. Fizzy Logic For A Perfect Drink: Courtesy Boffins
2. Boffins Identify Fifth Gene Behind Joubert Syndrome
3. Boffins Find Link Between Common Sleep Disorder and Hypertension
4. Boffins Identify Molecule That Might Treat Food Allergy
5. Boffins a Step Closer to Solving Puzzle of Lou Gehrigs Disease
6. Boffins Identify Gene That Helps Regulates Body Weight
7. Boffins Link Atkins Diet With Bowel Cancer
8. Boffins Develop New Technique to Hunt Illness-causing Mutants in Non-gene DNA
9. Research Identifies The Causes Of Snoring
10. New Test Identifies Candidates For Cardiac Defibrillator
11. Research Identifies Osteoporosis Controlling Protein
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/27/2016)... Lafayette, California (PRWEB) , ... ... ... a pioneer in the patient payment industry today announced its strategic partnership ... and health system workflows. , The two companies’ proven, proprietary technology combine ...
(Date:6/27/2016)... ... ... TopConsumerReviews.com recently awarded their highest five-star rating to Best Buy Eyeglasses, an ... United States and Canada wear eyeglasses. Once considered to be a purely functional part ... fashion statement. Even celebrities use glasses as a way of creating an iconic image—like ...
(Date:6/26/2016)... ... June 26, 2016 , ... On June 10-11, 2016, A Forever Recovery, ... Festival and World’s Longest Breakfast Table in Battle Creek, MI, where the rehabilitation facility ... home to some of the world’s leading providers of cereal and other breakfast foods. ...
(Date:6/26/2016)... ... June 26, 2016 , ... PawPaws brand pet ... product that was developed to enhance the health of felines. The formula is all-natural ... two main herbs in the PawPaws Cat Kidney Support Supplement Soft Chews ...
(Date:6/26/2016)... Clarkston, Michigan (PRWEB) , ... June 26, 2016 ... ... respect to fertility once they have been diagnosed with endometriosis. These women need ... but they also require a comprehensive approach that can help for preservation of ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... 24, 2016   Pulmatrix, Inc ., (NASDAQ: ... inhaled drugs, announced today that it was added to ... its comprehensive set of U.S. and global equity ... an important milestone for Pulmatrix," said Chief Executive Officer ... of our progress in developing drugs for crucial unmet ...
(Date:6/24/2016)... 24, 2016  Arkis BioSciences, a leading innovator ... more durable cerebrospinal fluid treatments, today announced it ... funding is led by Innova Memphis, followed by ... private investors.  Arkis, new financing will accelerate the ... market release of its in-licensed Endexo® technology. ...
(Date:6/23/2016)... Research and Markets has announced the addition of ... report to their offering. ... kidney failure, it replaces the function of kidneys by removing ... thus the treatment helps to keep the patient body,s electrolytes ... Increasing number of ESRD patients & substantial healthcare expenditure ...
Breaking Medicine Technology: