Qatar University research advances understanding of homocystinuria

QATAR—A team of researchers from Qatar University’s (QU) Health Sector has made a significant breakthrough in understanding the genetic basis of homocystinuria, a rare inherited disorder.

This discovery could pave the way for improved treatment options for individuals affected by this condition, particularly in Qatar, where the disorder is more common.

The study, led by Dr. Michail Nomikos from QU’s College of Medicine, alongside Dr. Gheyath Nasrallah from the College of Health Sciences and PhD graduate Dr. Duaa al-Sadeq, focused on a mutation in a gene that encodes for cystathionine beta-synthase (CBS), an enzyme critical for breaking down a substance in the body called homocysteine.

When the CBS enzyme malfunctions due to a mutation, it leads to a harmful buildup of homocysteine in the body, causing homocystinuria.

Homocystinuria is associated with serious health problems, including vision issues, blood clots, and bone deformities.

Current treatment options are limited, leaving affected individuals and their families with few effective solutions.

By examining the specific genetic mutation known as T236N, the researchers have provided crucial insights into how this single amino acid change disrupts the enzyme’s function.

To investigate, the team used advanced lab techniques to create two versions of the CBS enzyme—one with the T236N mutation and one without.

By comparing the two, they observed how the mutation alters the enzyme’s structure and impairs its ability to function properly.

 This detailed analysis revealed how the genetic mutation directly contributes to the onset of homocystinuria.

Dr. al-Sadeq, who received the Best Dissertation Award in Medical Sciences for her work on this project, emphasized that understanding how the mutation impacts CBS function sheds light on the disorder’s underlying mechanisms.

 Dr. Nomikos added that these findings bring researchers closer to developing targeted treatments that could restore enzyme function, offering hope to those affected by this rare disorder both in Qatar and globally.

The next phase of this groundbreaking research involves identifying compounds that could reverse the effects of the mutation.

Through drug screening, the team aims to discover treatments that restore CBS activity, marking a promising step forward in addressing homocystinuria and similar genetic disorders.

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