SHEDDING LIGHT ON CHROMOSOMAL DISEASE

First-of-its-kind Saudi stem cell study provides insight into a genetic condition

KAUST regularly participates in research projects with other healthcare and educational institutions. As part of the Smart Health Initiative, assistant professor and principal investigator in the Stem Cell and Diseases Laboratory at KAUST, Antonio Adamo, collaborated with King

“The Kingdom is benefiting from the world-class collaboration between our three leading research entities. iPSC technology is revolutionizing the study of the molecular mechanisms of disease as it enables researchers to study human cells derived from patients.”

PIERRE MAGISTRETTI Vice President for Research

Abdulaziz University (KAU) and King Abdulaziz University Hospital (KAUH), both located in Jeddah, to undertake a comprehensive study on Klinefelter syndrome.

Klinefelter syndrome is a condition that affects approximately one in every 600 Saudi males. It is characterized by the presence of an additional X chromosome in boys and men. The genetic sex of a baby is determined by two types of chromosomes: X and Y. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). However, individuals with Klinefelter syndrome have an extra X chromosome (XXY). These individuals are genetically male and the condition’s symptoms may not be apparent until later in life. Common features of the syndrome include infertility, intellectual disability and metabolic syndrome.

In the KAUST-KAU-KAUH study, researchers conducted a comparative analysis of stem

King Abdulaziz University

“This work illustrates the partnership between KAUST, KAU and KAUH. Our scientists developed the first Saudi patient-derived stem cellbased model to understand the prevalence of Klinefelter syndrome in the country.”

Amin Noaman, Professor of Computer Science and President for Graduate Studies and Scientific Research, King Abdulaziz University cells derived from a unique cohort of Saudi Klinefelter syndrome patients to a group of individuals of North American and European descent. Previous studies on Klinefelter syndrome have primarily focused on patients from North America and Europe, leading to a limited understanding of the disease within the MENA context.

By utilizing patient-derived induced pluripotent stem cells (iPSCs) from samples of skin, blood, hair or urine, the researchers assessed the molecular mechanisms underlying the syndrome. The study successfully reverted the patient’s cells to an embryonic state, allowing them to model the initiation and progression of the disease in a dish. The findings revealed a specific subset of genes on the X chromosome that exhibited dysregulation – the inability to function in a normal way – which was consistent across different ethnicities and genetic compositions.

The Saudi iPSC cohort offers a cellular platform to study more than just chromosomal diseases. Because iPSCs are from patients, they can be used to study diseases of all organs in the body, including heart disease, Alzheimer’s disease and diabetes. It is also expected to make a major contribution to personalized medicine.