Research, involving Weill Cornell Medicine-Qatar (WCM-Q) into how the body metabolises fat and cholesterol, has been named as one of the top 10 most significant advances in heart disease of 2015 by the American Heart Association.
The research, which identified tiny particles of previously overlooked genetic material that can affect how the body deals with cholesterol and other fats, had already been published in the journal Nature Medicine. The latest accolade from the American Heart Association demonstrates how significant the research is, potentially offering doctors new avenues for treating patients with abnormal cholesterol levels.
Dr Hani Najafi, assistant professor of cell and developmental biology at WCM-Q, initiated the research project five years ago. He said it was gratifying that research conducted in the laboratory has the potential for direct and positive impact on the lives of patients by providing new strategies to combat abnormal cholesterol and fat levels in the body.
Dr Najafi said: “What one may think of as relatively insignificant can actually be of huge importance to the body and the way it reacts. This research is testament to the fact that although we are making huge advances in basic genetic research each year, we still have an awful lot to learn about its impact on medicine.”
In collaboration with research centres such as Massachusetts General Hospital, Harvard Medical School and Weill Cornell Medicine in New York, Dr Najafi examined the enormous amount of data that has been generated from the genome-wide association studies that seek to identify and link specific genes with certain diseases. These studies have identified genes that potentially contribute to the characteristics of conditions like high cholesterol/lipid levels, severe obesity, and other metabolic diseases.
The studies take the gene sequence and look for SNPs (single-nucleotide polymorphisms). These are variations that happen within the gene sequence and some of these variations can affect the function of the gene. If there is a strong association between an SNP and a particular characteristic or disease, that SNP will stand out as being significant. The researcher would then identify genes that include or are close to that SNP.
But Dr Najafi saw that alongside the protein-coding genes that were listed, there were also small non-protein coding genes known as microRNAs embedded within the vicinity of the SNPs. MicroRNAs are known as novel inhibitors of gene expression with an emerging role in human metabolic diseases. Dr Najafi and his colleagues asked if the miRNAs could be playing a role and contributing to lipid abnormality.
Dr Najafi added: “We found that overall 69 miRNAs were in close proximity to the signature SNPs associated with abnormal lipid levels. More surprisingly, we saw that more than 30 different genes that have a role in lipid metabolism are potential targets of the identified miRNAs.”