Harmless mutations may cause serious illnesses when combined together, case study shows

mother and baby generic
Image: iStock

In 2008, pediatric cardiologist Deepak Srivastava treated a newborn baby who suffered from acute heart failure and had to be put on life support. At the time, the Gladstone Institutes physician-researcher didn’t know what had caused the emergency. But when he found out that the baby’s parents had previously lost a child at 24 weeks into the pregnancy, Srivastava became suspicious that there was a genetic component to the disease.

In 2011, Srivastava and collaborators used whole-exome sequencing to search for genetic variants in Tatiana, by then three years old, and her parents. It turned out that Tatiana’s father had mutations in MYH7 and MKL2 (also known as MRTFB or myocardin related transcription factor B), genes important for heart and muscle development. Her mother, meanwhile, had a variant of the NKX2-5 gene, which encodes a cardiac-specific protein involved in regulating embryo development. Each mutation led to a single amino acid difference at the protein level.

Related article:  We don't know enough yet to effectively pick embryos to get smarter, taller children, study says

They found that all three children had inherited all three genetic mutations—and, on further examination, that they all had similar heart problems. Each child’s left ventricle had failed to mature properly, and their hearts were thus unable to pump blood effectively.

Read full, original post: Genes that Are Harmless on Their Own Cause Disease When Combined

Outbreak Daily Digest
Biotech Facts & Fallacies
Talking Biotech
Genetics Unzipped
ac antarctica feat x

Video: Antarctica research shows how isolation changes the brain

As humans grapple with pandemic-induced isolation, science is starting to offer insight into what may be happening in our brains when ...
mag insects image superjumbo v

Disaster interrupted: Which farming system better preserves insect populations: Organic or conventional?

A three-year run of fragmentary Armageddon-like studies had primed the journalism pumps and settled the media framing about the future ...
dead bee desolate city

Are we facing an ‘Insect Apocalypse’ caused by ‘intensive, industrial’ farming and agricultural chemicals? The media say yes; Science says ‘no’

The media call it the “Insect Apocalypse”. In the past three years, the phrase has become an accepted truth of ...
globalmethanebudget globalcarbonproject cropped x

Infographic: Cows cause climate change? Agriculture scientist says ‘belching bovines’ get too much blame

A recent interview by Caroline Stocks, a UK journalist who writes about food, agriculture and the environment, of air quality ...
organic hillside sweet corn x

Organic v conventional using GMOs: Which is the more sustainable farming?

Many consumers spend more for organic food to avoid genetically modified products in part because they believe that “industrial agriculture” ...
benjamin franklin x

Are most GMO safety studies funded by industry?

The assertion that biotech companies do the research and the government just signs off on it is false ...
gmo corn field x

Do GMO Bt (insect-resistant) crops pose a threat to human health or the environment?

Bt is a bacterium found organically in the soil. It is extremely effective in repelling or killing target insects but ...

Environmental Working Group: EWG challenges safety of GMOs, food pesticide residues

Known by some as the "Environmental Worrying Group," EWG lobbies for tighter GMO legislation and famously puts out annual "dirty dozen" list of fruits and ...
m hansen

Michael Hansen: Architect of Consumers Union ongoing anti-GMO campaign

Michael K. Hansen (born 1956) is thought by critics to be the prime mover behind the ongoing campaign against agricultural biotechnology at Consumer Reports. He is an ...
News on human & agricultural genetics and biotechnology delivered to your inbox.
Optional. Mail on special occasions.
Send this to a friend