Islamabad: Investment in higher education in Pakistan continues to reap dividends. The Center of Excellence in Molecular Biology, University of the Punjab Lahore discovers the function of new genes involved in inherited deafness.
The understanding of function of these genes has opened up a new area of genetic research which will lead to the treatment of deafness in future.
The group on genetic disease published a paper in Nature Genetics in December 2000 (Nature Genetics 26: 431-434, 2000) revealing the discovery of new class of genes (DFNM1) which “correct” the mis-functions deafness-causing gene involved in inherited deafness (DFNB26) .
A family from Lahore (PK-02) comprising 141 individuals was identified. Eight individuals of this family were genetically deaf but they exhibited normal hearing in routine life.
All audiological test reports were normal but genetic analysis revealed that these individuals harboured a deafness mis-functioning gene, therefore, they should all be deaf.
A detailed genetic study on those individuals of this family revealed that they also harbored a gene which corrected the mis-functions of the deafness causing gene.
The new family of genes is designated “modifier genes”. This is the first report on the presence of “modifier genes” which can correct human hearing impairment, published in Nature Genetics. The function of this gene has been studied in Mouse model which revealed that the said gene is also involved in fibrosis.
These are truly outstanding discoveries that have opened new vistas of research in the genetics of hearing impairment and will clinically move us closer to improved genetic diagnosis, counselling and therapeutic intervention capabilities for hearing loss.
The senior management of Higher Education Commission Pakistan has appreciated the wonderful contribution made by the faculty and researchers of the Centre of Excellence in Molecular Biology, University of the Punjab Lahore.