The Big Eaters Behind Systemic Sclerosis

A team of researchers from Singapore and the UK used genomic analysis to reveal the role of macrophages in systemic sclerosis.

AsianScientist (Jan. 23, 2018) – Researchers have demonstrated that immune cells called macrophages—meaning ‘big eater’ in Greek—are key players in the development and progression of systemic sclerosis (SSc). Their findings are published in the Annals of Rheumatic Diseases.

SSc is a debilitating autoimmune disease of the connective tissue. It is characterized by the thickening of skin and the excessive deposition of collagen in the kidneys, lung, heart and gastrointestinal tract. Previous genetic studies have found various genes associated with SSc susceptibility, but so far, it is not known for certain which type of cells are crucial for the development of the disease.

In this study a team of researchers led by Associate Professor Enrico Petretto at the Duke-National University of Singapore Medical School (Duke-NUS), along with Dr. Jacques Behmoaras at Imperial College London and collaborators from University College London in the UK, established for the first time a decisive link between macrophages and systemic sclerosis.

The team used advanced transcriptomic and genetic analyses, which included RNA sequencing and systems genetics analysis of macrophages from 57 SSc patients, to decisively establish the role for hundreds of macrophage genes in the development of SSc.

“In the long quest to identify therapies for systemic sclerosis, our findings have implications for understanding the genetic basis of the disease. We believe our discovery will prompt detailed functional studies in macrophages and immune cells, hopefully providing a starting point to develop greatly needed treatments for this disease,” explained Petretto.

“Investigating how genetic variation is responsible for systemic sclerosis is a colossal task. By looking at immune cells such as macrophages, we can generate specific hypotheses that will allow us to understand how these cells cause damage,” added Behmoaras.

The researchers suggest that their study provides a new starting point to better understand the aetiology of SSc, including its genetic causes, which could facilitate the development of therapies for the disease.

The article can be found at: Moreno-Moral et al. (2018) Changes in Macrophage Transcriptome Associate with Systemic Sclerosis and Mediate GSDMA Contribution to Disease Risk.


Source: Duke-NUS Medical School; Photo: Shutterstock.
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