Pakistani and Swiss scientists discovered “MARK3” a new genetic mutation which is responsible for eye (shrinking eyeballs) in children that lead to blindness in Pakistan. According to geneticists report from the University of Geneva Medical School (UNIGE) and the Liaquat University of Medical & Health Sciences, Jamshoro, many families in Pakistan have the mutant gene.
The mutations were discovered in a family having three affected children because of genetic alignments. In Pakistan cousins and close relative marriages are common due to this, infected children inherited two copies of genetic mutation from both parents. In medical term it is referred as consanguineous family.
Muhammad Ansar, a researcher 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. These individuals developed progressive Phthisis bulbi (shrinkage of the eyeball).”
The reason behind the mystifying eyeball disappearance disease explained in the journal Human Molecular Genetics .Various genes causing alarming diseases discovered in 2018 in Pakistan. For instance, a unique ADCY3 gene found loss of smell and severe obesity among few Pakistani families.
Pakistan’s first Genetic Mutation Database from Kohat University, which covers 1,000 mutations of 120 disorders and syndromes, noted in Pakistan.