A collaboration of Pakistani and Swiss scientists have discovered a new genetic mutation, labelled MARK3, responsible for eye defects leading to blindness in Pakistan.
According to reports, geneticists from the University of Geneva Medical School (UNIGE) and the Liaquat University of Medical & Health Sciences, Jamshoro, have analysed the genome of many families having the mutant gene, in a new gene called MARK3.
The mutations were discovered in the MARK3 gene in a family having three affected children. Both parents were cousins, referred to as consanguineous family in medical terms. The infected children inherited two copies of genetic mutation, from both the mother and father.
Muhammad Ansar, a researchers at the Department of Genetic Medicine and Development at UNIGE said, “We found a pathogenic mutation in a new gene – that was not linked to any disease before – named as MARK3 in a Pakistani family of three affected individuals. These individuals developed progressive Phthisis bulbi (shrinkage of the eyeball).”
The findings, published in the journal Human Molecular Genetics, explained the reason behind the mysterious eyeball disappearance disease which was unknown till this research. It was discovered that the mutation is responsible for the shrinking eyeballs in children leading to the blindness.
Cousin marriages and marriages among close relatives are common in Pakistan and responsible for many genetic ailments, a majority of them which have not been explored yet.
In 2018, national and international teams have discovered various genes causing exceptional alarming diseases in Pakistan. For instance, a unique genetic mutation in ADCY3 gene found loss of smell and severe obesity among few Pakistani families.
Geneticists from Kohat University of Science & Technology set Pakistan’s first Genetic Mutation Database, which covers 1,000 mutations of 120 disorders and syndromes, many of which are only noted in Pakistan.