Health

Miniature brains made out of patients’ skin cells to scrutinise autism better: study

Study may help predict possibility of new drug targets

 
By Sakshi Jain
Last Updated: Friday 14 August 2015

File:Boy with Autism.jpg

A new study has added a new dimension to gaining insights about Autism Spectrum Disorder (ASD), a disorder characterised by impaired social interaction, verbal and non-verbal communication and restricted or repetitive behaviour. The results of the study by the researchers of Yale University of Medicine were published in the journal Cell on July 16 and may help predict the possibility of new drug targets.

The researchers commenced their research with the biology of the disorder instead of genetics. They focussed on children who show the widely common characteristic of autism—enlarged brain. The researchers invented three-dimensional simulated miniature human brains called “brain organoids” by converting the skin cells of patients into induced pluripotent stem cells (cells made directly from adult cells). These so-called "brain organoids" are just a few millimetres in diameter but mimic the basics of early human brain development, roughly corresponding to the first few months of gestation. They then compared gene expression and developing cell types between the patients and their family members, typically their fathers without ASD.

They noted that cells of the patients divided at a faster pace, producing more inhibitory neurons and synapses (a structure permitting neuron to pass an electric or chemical signal to another cell). A 10-fold increase in a gene called FOXG1, which is important in the early growth and development of neurons in the embryonic brain, was also observed.

It was suggested that by regulating FOXG1 expression levels in patients’ neural cells, the observed alterations could be fixed.“The success of the approach also suggests that similar methods might be used to gain important insights into other human developmental diseases that have until now been difficult to crack open,” said Flora Vaccarino, lead author of the research and MD at the Harris Professor of Child Psychiatry and Professor of Neurobiology at Yale School of Medicine.

Recent studies of genetic mutations in rare cases of ASD hint that development of the cerebral cortex (the outer layer of the cerebrum, composed of folded grey matter and playing an important role in consciousness) in the foetal period is abnormal in autism. The research team of this study sought to pinpoint what goes wrong as the cerebral cortex develops.

This result is being further used by the researchers to find mutation or epigenetic changes leading to this result.

While talking to Down To Earth, Rene Anand, professor of Biological Chemistry and Pharmacology at The Ohio State University College of Medicine and Wexner Medical Center, US said that the paper by Dr Vaccarino represents cutting edge research for Central Nervous System (CNS) diseases and a new possibility of developing techniques to fix them. She also informed about the major milestone achieved by her laboratory a year before by engineering a first nearly complete embryonic human brain with all the major brain parts and cell types using stem cells. NeurXstem, a startup company by them is based on licensing the technology they developed (from the university) to help make these complete stem cell based human brain organoids. They intend to make the technology available commercially soon, so that science of all brain disorders can progress rapidly.

With such interventions, there is an emerging ray of hope for exceptional development in the field of neurosciences.

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