Medical Research Council - London Institute of Medical Sciences

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Combined Effects

How gene mutation and alcohol exposure converge to cause birth defects

12 November 2020

Combined Effects

signalling pathways’ – choreograph precise changes that guide the growth of the complex human body from scratch. If these signals are distorted fatal birth defects, such as holoprosencephaly a condition linked to genetic mutations and alcohol exposure, can result. Previous research revealed that mutations in a gene called CDON, part of the Hedgehog signalling pathway, cause holoprosencephaly when a foetus is exposed to alcohol in the womb. To understand more, a new study examined mouse embryos (pictured, with nerves coloured) and discovered that the alcohol exposure was most harmful at early stages of pregnancy, and that the damage was caused via a second signalling pathway. This highlights how a combination of factors, both genetic and alcohol-related, prompt such developmental disorders, and insights like this could one day help prevent them.

Written by Anthony Lewis

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