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Heart defect caused by gene mutation combination

Friday 31st May 2019
A study of a single family has revealed that a congenital heart defect is caused by three gene mutations in combination with each other.
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As many as one per cent of children are born with congenital heart disease, but in many cases the cause of this is unknown. In many cases the defects are due to genetic factors, but up until now it hasn’t been clear which genes are responsible, and how. However, a new study has found that three genes working in combination could be a cause.

Scientists from the Gladstone Institutes and the University of California, San Francisco (UCSF) discovered this due to a single family. Dr Deepak Srivastava, cardiologist at UCSF Benioff Children’s Hospitals and senior author of the study, treated a two-month-old child around a decade ago for a type of heart disease known as left ventricular noncompaction.

The child’s four-year-old sister had a similar condition, and another sibling died as a foetus in the third trimester, also from left ventricular noncompaction. Tests on the parents revealed the mother’s heart was normal, but the father had a mild version of the disease that only came on in adulthood.

Dr Srivastava said: ““Given the severity of the disease in the children and the fact that one of the parents had an asymptomatic form, we suspected that the condition in the children was caused by a combination of the mother and the father’s genes.” As such, the team sequenced the parents’ genomes.

They discovered that the father had mutations in the MKL2 and MYH7 genes, both of which put him at risk of developing heart disease. The mother had a mutation in the gene NKX2-5, which isn’t associated with any heart condition. However, the researchers hypothesized the combination of the three was the cause of heart defects in the couple’s children.

To test this, the team used CRISPR genome editing to create the same three mutations in mice. No signs of heart disease were observed in any of the mice who had been given one or two of the mutated genes, but those with all three were observed to develop the same type of defect as the children suffered from.

Written by Matthew Horton

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