Microcephaly brain size linked to mutation in stem cell micro environment

August 9, 2017, Australian National University
Dr Leonie Quinn looking at Drosophila (vinegar flies) through the microscope. Credit: Stuart Hay, ANU

New research highlights the significant role the surrounding environment of stem cells, known as the niche, might play in the brain size of babies with microcephaly.

Mutations in certain genes have been linked with small brains (), dwarfism and other developmental defects. Since the discovery of these microcephaly genes, extensive research has been conducted to determine how they cause smaller brains in patients.

Although much research has focused on defective function as the likely culprit in causing small brains in patients with a mutation in the microcephaly protein WDR62, researchers at the Australian National University (ANU) have found that reduced brain size is caused by loss of WDR62 function in the stem cell microenvironment.

"Using genetic models we found when this gene was mutated in the neural stem cells the wasn't affected at all. The neural stem cells were reduced but the other in the brain compensate," said Dr Quinn group leader at The John Curtin School of Medical Research at ANU.

"Instead, only reduction of WDR62 in the stem cell microenvironment (or niche) severely reduces brain growth by indirectly causing neural stem cell loss and impaired brain development."

The work has been done as a collaboration between ANU and Dr Dominic Ng's team at the University of Queensland.

Dr Quinn said the findings would help researchers not only understand how microcephaly mutations cause small brains in microcephaly patients, but also revealed the important connections between and their niche required for healthy brain development.

"We knew that the loss of the WDR62 microcephaly gene caused patients to have very small brains, dwarfism and other developmental defects, but we didn't know the mechanism," she said.

"By understanding the pathways that cause microcephaly, we will also gather information on how zika virus impacts development to cause microcephaly in the babies in Brazil."

The research has been published in the journal Stem Cell Reports.

Explore further: New insights into how the Zika virus causes microcephaly

More information: Nicholas R. Lim et al. Glial-Specific Functions of Microcephaly Protein WDR62 and Interaction with the Mitotic Kinase AURKA Are Essential for Drosophila Brain Growth, Stem Cell Reports (2017). DOI: 10.1016/j.stemcr.2017.05.015

Related Stories

New insights into how the Zika virus causes microcephaly

June 1, 2017
A study published today in Science shows that the Zika virus hijacks a human protein called Musashi-1 (MSI1) to allow it to replicate in, and kill, neural stem cells. Almost all MSI1 protein in the developing embryo is produced ...

In some genetic cases of microcephaly, stem cells fail to launch

August 24, 2016
In a very severe, genetic form of microcephaly, stem cells in the brain fail to divide, according to a new Columbia University Medical Center study that may provide important clues to understanding how the Zika virus affects ...

Scientists uncover how Zika virus causes microcephaly

February 17, 2017
A multidisciplinary team from The University of Texas Medical Branch at Galveston has uncovered the mechanisms that the Zika virus uses to alter brain development. These findings are detailed in Stem Cell Reports.

Study of genetic microcephaly in mice may reveal insights into Zika-based microcephaly

September 12, 2016
Microcephaly is a rare disorder that stunts brain development in utero, resulting in an abnormally small head. The Zika virus is one environmental cause of this devastating condition, but genetic defects can cause microcephaly, ...

Slow stem cell division may cause small brains

January 7, 2016
Duke University researchers have figured out how a developmental disease called microcephaly produces a much smaller brain than normal: Some cells are simply too slow as they proceed through the neuron production process.

Team discovers how Zika virus causes fetal brain damage

August 24, 2016
Infection by the Zika virus diverts a key protein necessary for neural cell division in the developing human fetus, thereby causing the birth defect microcephaly, a team of Yale scientists reported Aug. 24 in the journal ...

Recommended for you

Microscopic 'shuttles' transport enzyme from cells to trigger onset of kidney disease

March 21, 2018
A new study involving the University of Sheffield has identified a key culprit in the onset of kidney disease in a major marker for kidney disease development.

Metabolite therapy proves effective in treating C. difficile in mice

March 20, 2018
A team of UCLA researchers found that a metabolite therapy was effective in mice for treating a serious infection of the colon known as Clostridium difficile infection, or C. difficile.

Sick air travelers mostly likely to infect next row: study

March 19, 2018
People who fly on airplanes while contagious can indeed get other people sick, but the risk is mainly to those seated next to them or in the adjacent row, US researchers said Monday.

Study of COPD patients has created a 'looking glass' into genome of pathogen

March 19, 2018
Decades of work on chronic obstructive pulmonary disease (COPD) at the University at Buffalo and the Veterans Affairs Western New York Healthcare System have yielded extraordinary information about the pathogen that does ...

Newly described human antibody prevents malaria in mice

March 19, 2018
Scientists have discovered a human antibody that protected mice from infection with the deadliest malaria parasite, Plasmodium falciparum. The research findings provide the basis for future testing in humans to determine ...

A multimodal intervention to reduce one of the most common healthcare-acquired infections

March 16, 2018
Surgical site infections are the most frequent health care-associated infections in developing countries. According to the World Health Organization (WHO), this type of infection can affect up to one-third of surgical patients ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.