A new study led by researchers from the Hebrew University constitutes a breakthrough in the study of a disease related to parental imprinting * This study, which has just been published in the journal Nature Genetics, constitutes a significant breakthrough in understanding the genetic mechanisms involved in the disease
While the vast majority of genes are expressed in markers from both parents, a small group of genes in mammals (including humans) show components from the paternal or maternal copy only - a phenomenon known as parental imprinting. This feature of single-copy expression causes hypersensitivity, mutations and impaired gene function, and indeed genes involved in parental imprinting are known for their contribution to various diseases and cancerous tumors.
The most studied disease in the field of parental imprinting is Prader-Willi. Prader-Willi syndrome is a developmental disease manifested by cognitive impairment and behavioral problems, extreme obesity, and impairment of sexual maturation. It is a genetic disease characterized by damage to the copy inherited from the father in a chromosomal region in the person named after the disease. In an article published in the prestigious journal Nature Genetics, researchers from the Hebrew University manipulated adult cells from patients with Prader-Willi syndrome and reprogrammed them into embryonic stem cells. This procedure enabled a significant breakthrough in understanding the factors influencing the formation of the disease, including new molecular mechanisms involved in the first stages of its development.
The research, led by Prof. Nissim Benvanisti and research student Yonatan Shtelzer from the stem cell unit at the Hebrew University, led to the discovery of a new chromosomal region that is damaged in the patients, and contains additional imprinted genes. The study showed which of the genes responsible for the disease affects the expression of the new chromosomal region involved in the syndrome. "The use of induced stem cells allowed us to create a model for the important genetic Prader-Willi disease, and to identify a new genomic region involved in it," says Prof. Nissim Benvanisti, head of the stem cell unit. In addition, research student Yonatan Shtelzer says: "The surprising finding requires rethinking regarding the evolution of parental imprinting in placental mammals in general and in humans in particular." This finding may have significant consequences in the understanding of the molecular mechanisms that contribute to the creation of the disease and the ways of characterizing and treating patients in the future.
