Navigation Links
Gene responsible for common hearing loss identified for first time

A gene responsible for the single most common cause of hearing loss among white adults, otosclerosis, has been identified for the first time, a scientist told the annual conference of the European Society of Human Genetics in Nice, France. Ms 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, Ms Thys told the conference. “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. 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 said. Improved understanding may also lead to prevention strategies.

Ms 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 significant result, from which we were able to conclude that we were the first to identify a gene that influences the susceptibility for otosclerosis”, said Ms Thys. “And, as further evidence, we were also able to show that a more active variant of this gene is protective against the disease.”


'"/>

Source:European Society of Human Genetics


Related biology news :

1. Scientists identify genes responsible for black rot disease in vegetables
2. Scientists discover genetic pathway responsible for breast cancer cell growth
3. K-State professors discover enzyme responsible for creation of a beetles hard shell
4. Gene therapy reverses genetic mutation responsible for heart failure in muscular dystrophy
5. Key stress protein linked to toxicities responsible for Parkinsons, Alzheimers
6. A single sugar found responsible for an antibodys ability to treat inflammation
7. Researchers discover new gene responsible for brittle bone disease
8. Study shows antibiotic-resistant bacteria responsible for increase in muscle infections
9. Study uncovers mutation responsible for Noonan Syndrome
10. Scientists sequence genome of parasite responsible for common sexually transmitted infection
11. Study shows continued success for new HPV vaccine against virus responsible for cervical cancer

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/9/2016)... -- Paris Police Prefecture ... to ensure the safety of people and operations in several ... tournament Teleste, an international technology group specialised in ... that its video security solution will be utilised by ... safety across the country. The system roll-out is scheduled for ...
(Date:6/2/2016)... Perimeter Surveillance & Detection Systems, Biometrics & ... & Other Service  The latest report from ... of the global Border Security market . Visiongain ... billion in 2016. Now: In November 2015 ... and hardware technologies for advanced video surveillance. ...
(Date:5/12/2016)... , May 12, 2016 WearablesResearch.com ... just published the overview results from the Q1 wave ... the recent wave was consumers, receptivity to a program ... data with a health insurance company. "We ... to share," says Michael LaColla , CEO of ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... 27, 2016  Global demand for enzymes is ... 2020 to $7.2 billion.  This market includes enzymes ... products, biofuel production, animal feed, and other markets) ... biocatalysts). Food and beverages will remain the largest ... consumption of products containing enzymes in developing regions.  ...
(Date:6/27/2016)... ... June 27, 2016 , ... Parallel 6 , the leading ... the Clinical Reach Virtual Patient Encounter CONSULT module which enables both audio ... and clinical trial team. , Using the CONSULT module, patients and physicians can schedule ...
(Date:6/27/2016)... , June 27, 2016   Ginkgo Bioworks ... to industrial engineering, was today awarded as one ... selection of the world,s most innovative companies. Ginkgo ... scale for the real world in the nutrition, ... engineers work directly with customers including Fortune 500 ...
(Date:6/24/2016)... ... 2016 , ... Researchers at the Universita Politecnica delle Marche in Ancona combed ... pleural mesothelioma. Their findings are the subject of a new article on the Surviving ... signposts in the blood, lung fluid or tissue of mesothelioma patients that can help ...
Breaking Biology Technology: