Gene related to brain damage in pre-term infants identified

September 5, 2017
Gene related to brain damage in pre-term infants identified

A gene has been identified by researchers at King's College London that is thought to be associated with the types of brain damage that can be caused by pre-term birth.

Premature labour is associated with inflammation in the mother or baby, often due to infection. This can cause damage to the that could lead to lifelong conditions such as cerebral palsy, autism or learning or behavioural difficulties in up to 30 per cent of pre-term babies.

Published today in Nature Communications, a new study investigated the role of microglial cells, which control the immune response in the brain, in responding to this inflammation. Researchers found a gene, known as DLG4, in these cells that is thought to be involved in controlling the inflammatory process.

DLG4 is found in different forms in all humans but previously was thought only to play a role in the function of the nervous system. This new finding suggests it is also involved in the process of brain damage in some pre-term babies and may open doors for research into more effective treatments of these diseases.

The study, which was a collaboration between King's, Inserm and Paris Diderot University and Duke-NUS Medical School in Singapore, used an integrative approach which included mouse models of inflammation and a genomic analysis of over 500 infant brain scans. It identified differences in the way DLG4 was expressed in microglia in both the mouse models and brain scans.

This finding suggests a previously unknown mechanism of brain injury caused by pre-term birth. Whilst the association requires further study to confirm the role of microglia and the DLG4 gene, the result contributes to an existing body of evidence that links the gene with both the immune response and neuropsychiatric diseases such as schizophrenia and autism.

Professor David Edwards, Director of the Centre for the Developing Brain at King's College London said: 'We have shown that the DLG4 gene is expressed differently in microglia when a brain has been damaged by inflammation.

'In developing this work, we hope to provide a new avenue to study and understand how this inflammation and subsequent is caused so that scientists can work towards more effective treatments for diseases such as autism and , by stopping or even preventing the associated with .'

Associate Professor Enrico Petretto from Duke-NUS Medical School said: 'Given the previously acknowledged role of the DLG4 gene in brain diseases such as autism and schizophrenia, our study strengthens the link between the and susceptibility to develop these brain disorders.'

Professor Pierre Gressens from Inserm-Paris Diderot University and King's College London said: 'This study identifies for the first time the microglial expression of DLG4, a gene previously considered as expressed in neurons only and highlights the potential role of microglia in different neurodevelopmental disorders.'

Explore further: Study of nervous system cells can help to understand degenerative diseases

More information: Michelle L. Krishnan et al. Integrative genomics of microglia implicates DLG4 (PSD95) in the white matter development of preterm infants, Nature Communications (2017). DOI: 10.1038/s41467-017-00422-w

Related Stories

Study of nervous system cells can help to understand degenerative diseases

August 18, 2017
The results of a new study show that many of the genes expressed by microglia differ between humans and mice, which are frequently used as animal models in research on Alzheimer's disease and other neurodegenerative disorders.

Manipulating a type of brain cell gets weight loss results in mice

July 28, 2017
A new study has found something remarkable: the activation of a particular type of immune cell in the brain can, on its own, lead to obesity in mice. This striking result provides the strongest demonstration yet that brain ...

The brain may show signs of aging earlier than old age

March 18, 2016
A new study published in Physiological Genomics suggests that the brain shows signs of aging earlier than old age. The study found that the microglia cells—the immune cells of the brain—in middle-aged mice already showed ...

Brain's immune cells linked to Alzheimer's, Parkinson's, schizophrenia

May 31, 2017
Scientists have, for the first time, characterized the molecular markers that make the brain's front lines of immune defense—cells called microglia—unique. In the process, they discovered further evidence that microglia ...

Study finds inflammation in the brain is linked to risk of schizophrenia

October 16, 2015
A study published today in the American Journal of Psychiatry is the first to find that immune cells are more active in the brains of people at risk of schizophrenia as well as those already diagnosed with the disease.

Researchers identify immune component up-regulated in brain after viral infection

June 8, 2017
A new study of infection by a virus that causes brain inflammation and seizures in a mouse model has shown increased levels of complement component C3. The C3 was produced by immune cells in the brain called microglia within ...

Recommended for you

Genome editing reveals role of gene important for human embryo development

September 20, 2017
Researchers have used genome editing technology to reveal the role of a key gene in human embryos in the first few days of development. This is the first time that genome editing has been used to study gene function in human ...

A piece of the puzzle: Eight autism-related mutations in one gene

September 19, 2017
Scientists have identified a hotspot for autism-related mutations in a single gene.

Scientists identify key regulator of male fertility

September 19, 2017
When it comes to male reproductive fertility, timing is everything. Now scientists are finding new details on how disruption of this timing may contribute to male infertility or congenital illness.

New assay leads to step toward gene therapy for deaf patients

September 18, 2017
Scientists at Oregon State University have taken an important step toward gene therapy for deaf patients by developing a way to better study a large protein essential for hearing and finding a truncated version of it.

Biologists identify gene involved in kidney-related birth defects

September 18, 2017
A team led by University of Iowa researchers has identified a gene linked to rare, often fatal kidney-related birth defects.

Genomic recycling: Ancestral genes take on new roles

September 18, 2017
One often hears about the multitude of genes we have in common with chimps, birds or other living creatures, but such comparisons are sometimes misleading. The shared percentage usually refers only to genes that encode instructions ...

0 comments

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.