Researchers have linked faulty cells to the leading single-gene cause of autism — Fragile X syndrome.
They found that when brain cells lacking in Fragile X mental retardation protein (FMRP) did not mature it resulted in mitochondrial dysfunction.
Professor Xinyu Zhao, whose research links fragile X to mitochondrial dysfunction
Mitochondria supply the energy for cells to function. When they break down it can cause problems in the way the brain works.
Professor Xinyu Zhao, of the University of Wisconsin-Madison, led the team.
When Zhao, a professor of neuroscience, fused together fragmented mitochondria it “partially rescued” the immature brain cells.
‘Potential treatment for Fragile X syndrome’
In an email, Zhao said her work shows “mitochondrial fusion or function in general might be a potential treatment for Fragile X syndrome”.
The researcher, who carried out her work using mice, added: “A number of drug-like compounds and natural products have been developed for treating various diseases with mitochondrial deficits.
“We hope that some of these compounds can be repurposed for Fragile X syndrome, which we are testing in human neurons.”
Zhao’s work has also discovered that Fragile X is linked to huntingtin, which is the protein that mutates in Huntington’s disease.
The scientists found there is not enough of this protein in Fragile X and boosting it helped mitochondrial function.
Inherited learning disabilities
Fragile X causes inherited learning disabilities and may affect around one in 4,000 males and one in 8,000 females.
According to estimates, around half of those with Fragile X also have autism.
Becky Hardiman is the chief executive of the Fragile X Society. She called the research an interesting avenue to a better understanding of the biology of Fragile X.
“We look forward to seeing how the research develops, including whether this may have potential to benefit those living with Fragile X,” she added.
The research team published their results in Nature Neuroscience.
Related:
- Trials begin on drug to treat Fragile X
- Potential breakthrough over Fragile X
- Study holds hope for Fragile X treatment
- Antibiotic tested as autism treatment
- Gene find points to better treatment
Published: 11 April 2019
