subject: A Sound Research On The Deafness Gene [print this page] The gene responsible for deafness in new born babies has been found by scientists. With this, the scientist community is hoping to find a way out to develop new medicines to treat the condition. The research observed the DNA of people who inherited deafness from the both side of their families. It was found that in the PTPRQ gene, which is consider vital in developing the structures of the ear and plays a vital role in hearing got transformed in the process and caused deafness in the participants.
Nonetheless, the scientists are insisting that there could be many causes of deafness and other transformation of genes that can be held accountable for deafness inheritance but the identification of one gene modification can led the way to the cure of deafness.
The study was conducted under the guidance of Dr Margit Schraders et al of the Redbud University Nijmegen from Netherlands. Published in the American Journal of Human Genetics, the participants of the study were 80 people from 38 families who had the history of inherited hearing impairment.
The blood samples for DNA examining were taken of the participants. After observing the pattern of hearing impairment passed on to family, the researchers concluded that the individuals had two defective genes that caused deafness in them. So they started looking for the identical copies of PTPRQ gene in DNA because of the previous research they already knew the role of PTPRQ in development of auditory process.
Other than finding this homozygous identical of the genes, they also wanted to analyze the impact of the gene in the development of any other body part. Along with this, they tried to investigate the link between the individuals and their families. They observed the maturation of PTPRQ genes during the development phase and its activity in the other parts of body. This non-subjective observation was done to probe the clinical effect of this gene on a human body.
Two mutations in the PTPRQ gene were said to be causative to deafness in the research. The mutations happened because the sequencing of gene stopped abruptly in halfway. Stop codons which convey the signal that the synthesis of a protein should be stopped, could not do so. As a result the protein does not synthesize and the normal mutation of PTPRQ carries on to next step leaving the gaping hole in between the process.
The research indicated that PTPRQ is required for the normal maturation of cells in the ear cochlea which is a key structure that makes hearing possible. The mutation affected the functions of protein adversely. However, beside this ear abnormality no other problem was seen in physiology of organs. The researchers also stated that the gene PTPRQ was much active during the formation of lungs and heart as compared to liver but no abnormal activity was detected.
Hearing mutilation can be caused by a many of environmental and genetic factors. Because of this, it is unlikely that the detection of a single gene that causes deafness would lead to a cure for all deafness. Hearing loss can be because of various environmental and genetic factors, and because of this the causes of many deafness cases are still unidentified. Nonetheless this findings are a very promising sign in the development of treatment for congenital hear loss.
