New Genetic Mutation Behind Blindness Discovered by Pakistani & Swiss Scientists

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MARK3 is a new genetic mutation that has been recently discovered by Pakistani and Swiss scientist, it said this mutation is responsible for shrinking eyeballs in children that lead to blindness in Pakistan.


A genetics report by the University of Geneva Medical School (UNIGE) and the Liaquat University of Medical & Health Sciences, Jamshoro, state that many families in Pakistan have the mutant gene.

Furthermore, the mutation was discovered in a family that had three affected children because of this genetic alignment. One of the common reasons cited is cousins and close relative marriages that are common in Pakistan and as a result the infected children have inherited two copies of genetic mutation from both parents. In medical term it is referred as consanguineous family.


Researcher at UNIGE, Muhammad Ansar speaking about the genetic mutation to local news said that the pathogenic mutation in a new gene that has not been linked to any disease before and is named as MARK3 found in a Pakistani family that developed progressive Phthisis bulbi (shrinkage of the eyeball)in the individuals. To learn more about the genetic mutation, you can visit theHuman Molecular Genetics Journal.

In the past year various genes causing alarming diseases discovered in Pakistan, e.g. a unique ADCY3 gene was found to be responsible for the loss of smell and severe obesity among few Pakistani families. Furthermore, Pakistan’s first Genetic Mutation Database from Kohat University also covers about 1,000 mutations of 120 disorders and syndromes that have been noted in Pakistan.