Detection of gene variants causing hearing loss

Belgian scientists have found a gene variant that causes hearing loss. They hope this discovery will open new therapies, instead of the current surgery.

Hearing loss is the result of otosclerosis (otosclerosis), which arises from abnormal bone development in the middle ear, causing sound waves to be blocked, unable to be transmitted into the inner ear.

In this study, experts used the SNP technique, which analyzes single nucleotide polymorphism to find variations in the genetic structure of thousands of people, including patients and groups. control, from the Netherlands, France and Belgium.

Picture 1 of Detection of gene variants causing hearing loss

Otosclerosis usually starts at the age of 20 or 30. The patient's hearing ability is gradually lost over time.(Photo: Ear-crop)

The results showed that people with ear sclerosis had a specific variant of the gene TGBF1, a gene necessary for the development of the ear as soon as the fetus is still in the womb and affects the abnormal development of ear bones.

According to the team, ear sclerosis is caused by the interaction between two genetic elements and the environment . This disease is affecting millions of people around the world and is also the most common cause of hearing loss in white adults. In the UK, the proportion of people infected is 1/250.

Otosclerosis usually starts at the age of 20 or 30. The patient's hearing ability is gradually lost over time. Many people at first realized they could not hear small, low sounds; or they could not hear the whistle. Other symptoms include dizziness, loss of balance or tinnitus.

This research has just been published at the annual meeting of the European Society for Human Genetics, held in Nice, France.

At the conference, the research leader, Dr Melissa Thys, of the University of Antwerp, Belgium, said: 'It can be concluded that we are the first to find a gene that poses a risk of sclerosis. This finding is the first step to better treatments in the future, because currently the leading solution for treatment is still surgery. '

Picture 2 of Detection of gene variants causing hearing loss

Hearing loss: As a result of abnormal bone development in the middle ear, causing sound waves to be blocked .(Photo: photoshopwidows)

Currently, Dr. Thys and colleagues are focusing on studying this gene and its functions to develop new therapies for preventing and treating ear sclerosis.

Commenting on this new discovery, Dr. Catriona Crombie, of the Royal Society for Hearing Impairment, said: 'Finding the genetic variant that causes hearing loss is a huge success for researchers who are find ways to improve the lives of people who are deaf or hard of hearing '.

Vivienne Michael, Director of Deafness Research UK charity, also said that this study has brought a very significant result. She said: 'Currently, the most common treatment is surgery, but this finding helps us develop alternative therapies to prevent or slow the abnormal development of bone in the ear, aimed at limiting hearing impairment due to hardening of the ear '.

According to her, there is a factor involved in hearing loss that surgery cannot interfere with, which is the factor that affects the development of the ear bone. The sclerosis itself is caused by abnormal bone growth in the middle ear, so the discovery of the TGBF1 gene variant is opening up the prospect of a new therapy to cure hearing loss. '

Minh Quang