Research News: Dale Laird publishes "SnapShot" in Cell
How exactly do gap junctions, and their connexins, contribute to disease? Dale W. Laird, PhD, explains the answer to that question through a visual representation called a “SnapShot” published this month in the high-impact journal, Cell.
Laird and his colleagues in Vancouver and Seattle collaborated to create an infographic showing how diseases are influenced by mutations in the genes that encode connexins, which are found in virtually every cell type in the human body and are responsible for how cells directly communicate with each other. The team highlights how connexins are linked to distinct disease/abnormalities such as sensorineural hearing loss, skin diseases, congenital cataracts, and arrhythmias.
We asked Laird to explain more about the SnapShot:
What does this SnapShot demonstrate about connexins?
Laird: This SnapShot reveals the scope of diseases/abnormalities linked to mutations in the connexin gene family. Of the 21 connnexin genes, mutations in 10 of them lead to over two dozen clinically distinct diseases or abnormalities. Collectively, inherited mutations in this gene family are amongst the most common worldwide.
Why was it important to represent the information visually in this way?
Laird: The scope of diseases/abnormalities linked to connexins has been underappreciated for many years. This presentation in a high profile journal will increase awareness on the vast number of cellular mechanisms that can lead to disease in multi-organ systems.
Has this information been documented before?
Laird: Several past reviews (including some of our own) have highlighted various links between connexins and disease. This is the 1st visualization of the scope of diseases linked to connexins and the first of its kind to be published in Cell. It distills and consolidates considerable information from the literature including past discoveries from our own laboratories.
What do you hope that researchers/physicians and others will learn from this SnapShot?
Laird: We hope and anticipate that this publication will raise research and clinical interest in connexin-linked diseases. For instance, there are few researchers that study the role of connexins in hearing loss which is estimated to affect 2 million patients worldwide. Moreover, clinicians are not typically aware of the unexpected links between connexin diseases. For example, some hearing loss patients will have skin diseases due to mutations in a connexin gene that is expressed in both the inner ear and epidermis.
