Qatar - A recent research conducted by members of Qatar University’s (QU) Health Sector delineated the mechanism that a mutation in a gene encoding for an important protein can lead to homocystinuria, a rare inherited disorder.

This breakthrough discovery holds the potential to pave the way for more effective treatments for those affected by this condition.

In detail, this study revealed how an amino acid change (T236N) in an enzyme called cystathionine-synthase (CBS) causes it to malfunction. CBS is an enzyme that helps break down homocysteine, a substance in the body. When CBS does not work properly due to a mutation, it causes a condition called homocystinuria.

This genetic disorder leads to a harmful buildup of homocysteine, which can cause serious health problems like vision issues, blood clots, and bone deformities. Right now, treatment options are limited for those affected. By understanding how the mutation affects CBS, researchers hope to develop treatments that restore its normal function, offering hope for better care to affected individuals around the world and especially to those in Qatar, where this condition is more common.

This research study was led by Dr Michail Nomikos from QU’s College of Medicine, Dr Gheyath Nasrallah from the College of Health Sciences, and PhD graduate Dr Duaa al-Sadeq. Together, this dedicated team combined their expertise in genetics, biochemistry and medical sciences to investigate the impact of the mutation on the CBS enzyme, advancing understanding of this disorder and its potential treatments.

Dr al-Sadeq, who received the Best Dissertation Award in Medical Sciences for her outstanding work on this project, commented: “Our study sheds light on how a single genetic mutation can alter enzyme function in ways that contribute to serious health risks.” Dr Nomikos added: “By understanding these molecular changes, we move closer to developing targeted treatments for homocystinuria, offering hope to individuals and families affected by this rare yet impactful disorder in Qatar and across the world.” The researchers carefully studied the T236N mutation by using special lab techniques to see how it affects the CBS enzyme’s physiological function. To do this, they created two versions of the CBS enzyme, one with the mutation and one without. By comparing how these two versions worked, they were able to observe how the mutation changes the enzyme’s structure and how well the mutant enzyme functions.

This research helped them understand exactly how the mutation causes problems in the body, giving important clues about the genetic cause of the disorder. The next step in this exciting research is to find compounds that could potentially recover the function of the mutated enzyme. Through drug screening, researchers hope to find solutions that restore normal enzyme activity, offering a new direction for treating homocystinuria and similar disorders.

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