‘Stranger than doctors could have imagined’: Boy born without one type of brain cells

4-17-2019 lead
MRI of the boy's brain. Image: Oosterhof et al/American Journal of Human Genetics

Even before he was born, it was clear that the boy’s brain was unusual—so much so that his expecting parents flew from rural Alaska to Seattle, where specialists could attend to their son from birth. That is how [pediatric geneticist] James Bennett first met the boy, then a days-old infant struggling to breathe.

The answer was ultimately stranger than doctors could have imagined: The boy’s brain was missing an entire type of cell, called microglia, the result of mutations in a single gene, called CSF1R.

Microglia make up 10 percent of the brain’s cells, but they are not neurons and therefore have long been overlooked. The boy’s case makes their importance unmistakable. In the absence of microglia, the boy’s neurons still grew to fill his skull, but they ended up in the wrong places and made the wrong connections. Microglia, scientists have started to realize, guide the development of the brain.

Related article:  Have scientists discovered a new pain-processing organ under our skin?

A pediatric geneticist’s job, Bennett said, is often to diagnose extremely rare conditions, which push up against the limits of the human body. “On any day, you can find a patient you spend the rest of your career thinking about,” he said. The boy is one of them.

Read full, original post: The Boy Missing an Entire Type of Brain Cell

Outbreak
Outbreak Daily Digest
Biotech Facts & Fallacies
Talking Biotech
Genetics Unzipped
Infographic: What are mRNA COVID-19 vaccines and how do they work?

Infographic: What are mRNA COVID-19 vaccines and how do they work?

As of 1 December 2020, thirteen vaccines have reached the final stage of testing: where they are being given to ...
favicon

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

Known by some as the "Environmental Worrying Group," EWG lobbies ...
m hansen

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

Michael K. Hansen (born 1956) is thought by critics to be ...
News on human & agricultural genetics and biotechnology delivered to your inbox.
glp menu logo outlined

Newsletter Subscription

Optional. Mail on special occasions.
Send this to a friend