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:

(Date:11/27/2015)... Canada (PRWEB) , ... November 28, 2015 , ... There ... do we outperform our billings from last year? , This question has not been ... organizations are coming to the retirement age and the younger workforce don’t share the ...
(Date:11/27/2015)... ... November 27, 2015 , ... The rapid ... America. As people age, more care is needed, especially with Alzheimer’s, dementia and ... professionals are being overworked. The forgotten part of this equation: 80 percent of ...
(Date:11/27/2015)... ... November 27, 2015 , ... Lizzie’s Lice Pickers just announced a special ... 10% off of their purchase of lice treatment product. In addition, customers will receive ... a company spokesperson. “Finding lice is a sure way to ruin the holidays, so ...
(Date:11/27/2015)... ... November 27, 2015 , ... Consistent with the ... 2016 Building Better Radiology Marketing Programs meeting will showcase some of ... 6, 2016, at Caesars Palace in Las Vegas with a pre-conference session on ...
(Date:11/27/2015)... ... November 27, 2015 , ... Keeping in mind challenges faced ... and wellness consultation, has collaborated with a leading web-based marketplace for extra-curricular activities ... by parents and bring advice from parenting experts within their reach. As a ...
Breaking Medicine News(10 mins):
(Date:11/26/2015)... Nederland, November 26, 2015 ... Een nieuwe aanpak combineert immunotherapie met Bremachlorin-photodynamische ... ) --> ...      (Photo: ) ... Universitair Medisch Centrum (LUMC) blijkt ...
(Date:11/26/2015)... Nov. 26, 2015 Research and Markets ... the "2016 Future Horizons and Growth Strategies ... Supplier Shares, Country Segment Forecasts, Competitive Intelligence, Emerging ... --> --> This ... the Japanese therapeutic drug monitoring market, including emerging ...
(Date:11/26/2015)... 2015 --> ... potential att använda SyMRI för att hitta ... patienter med multipel skleros (MS) eller hjärntumörmetastaser ... AB för att kunna använda SyMRI Research ... SyMRI kan man generera flera konstrastbilder från ...
Breaking Medicine Technology: