Tel Aviv University Researchers Mapped Genomic Risk Factors for AMD

A unique genetic risk factor has been identified by researchers at Tel Aviv University for an eye disease called Age-related Macular Degeneration (AMD).

The disease results in loss of eyesight at an advanced age. Proteins have been identified by the researchers for the first time, which play a vital role in the functioning and development of tissue that the disease affects.

The researchers

The Tel Aviv University researchers found the exact sites of the proteins in the genome and identified the connection between the differences in these genomic regions as well as the risk for the disease.

The researchers said that thanks to the discovery, they could improve their understanding how genomic regions function outside the genes, something that was previously unknown.

They said that the method they had implemented would help in further deciphering other genetic mechanisms that play a role in numerous complex genetic diseases.

Prof. Ran Elkon and Prof. Ruth Ashery-Padan led the study with their research teams. These included May Eshel, Ahuvit David, Naama Mesika and Mazal Cohen Gulkar.

These people were from the Sackler Faculty of Medicine and Tel Aviv University. They hailed from the former’s Department of Biochemistry and Human Molecular Genetics.

As for the latter, they were from the Sagol School of Neuroscience at TAU. PLOS Biology published the research paper.

The challenges

According to Prof. Ashery-Padan, understanding the genetic mechanisms associated with complex diseases is one of the biggest challenges for researchers focused on genetic research.

This is due to the fact it is not a single gene that has an identifiable defect because the disease is usually caused by a combination of various environmental and genetic factors.

Some examples of these diseases include different mental illnesses, bowel diseases and diabetes. He said that they had opted to focus on AMD in their study.

It is because the disease leads to the central retina’s degeneration, which causes vision loss in various developed countries at an advanced age.

The genetic component

As for Prof. Elkon, he said that there is a major genetic component in AMD. He said that a number of genomic regions have shown differences when they compared the genomes of people who did and did not have AMD.

He added that these had probably been linked to the risk factors associated with the complex eye disease.

But, it should be noted that it was not a specific gene that had these differences, but they were found in the extensive regions that exist between various genes.

The modes of operations and functions of these areas are still mostly unknown. He said that comparative studies had been conducted that may have identified entire genomic regions that were linked to the disease.

But, they had not been able to highlight any particular feature in these regions that could be considered a risk factor.

Prof. Elkon stated that their study had been aimed at dealing with this problem and their focus had been on cells associated with a layer of tissue known as retinal pigmented epithelium (RPE).