Researchers have discovered a single gene involved to induce a rare developmental disability syndrome and has links with epilepsy. It’s known as linchpin which is formed in healthy neurons.
The above research was carried out at the Duke School of Medicine. After the study was conducted, scientists say the gene named DDX3X is involved forming a helicase which is basically referred as cellular machine.
The job of helicase is to split cul-de-sacs of RNA and hairpins so that the protein making machinery of the cell can further read the code.
Do you know that DDX3X mutations are presently considered to cause 1-3% of developmental disability in females. But these mutations are mostly found to have happened quite spontaneously, especially at the time of a developmental stage, instead of getting inherited from parents.
The point to be noted is that this gene is basically carried o X chromosome. Due to this females have 2 copies of it and males have only one.
For example, the researcher says that if you remove both the copies of this gene from females, then it may result in massive microcephaly to make the brains reduced in their size.
According to the Debra Silver, PhD, an associate professor of molecular genetics and microbiology in the Duke School of Medicine, “But the removal of a single copy is probably more closely mimicking what’s happening in human patients,” she said.
If you put all the above together, this simply means that defects caused by faulty DDX3X gene are most probably dosage-dependent. And so, the developmental disability syndrome are likely to vary depending on how badly the production of helicases are affected by mutation.
The above findings of the research has been published in the journal eLife.
Genetics of Neurodegeneration Causing Developmental Disability
When the gene DDX3X undergoes an early mutation in its early development process, it doesn’t has the availability of so many neurons over time. It’s because DDX3X is required for neuron production from progenitor cells.
This is what Silver has to say, “And what that means over time, if these neural precursors are taking too long to divide, is you fall behind, and the brain doesn’t develop properly.” she said.
There is also a previous study conducted which involved disabled children across the world. It was published in March 2020.
They used the genetic samples of all disabled children. During their study, they found half of the DDX3X mutations mainly disrupted the gene completely. But the other half worked quite poorly.