Could an Alzheimer's drug help children with autism?

The extensive study further sought to expand on their existing knowledge of the causes behind ADNP syndrome.

PET scans showing the differances between a normal older adult's brain and the brain of an older adult afflicted with Alzheimer's disease (photo credit: Wikimedia Commons)
PET scans showing the differances between a normal older adult's brain and the brain of an older adult afflicted with Alzheimer's disease
(photo credit: Wikimedia Commons)
New scientific study has found that an experimental drug for Alzheimer's disease could be used to help children with autism.
The study, titled "Tauopathy in the young autistic brain: novel biomarker and therapeutic target," was an extensive international effort led by Prof. Illana Gozes of Tel Aviv University's (TAU) Department of Human Molecular Genetics and Biochemistry, and was conducted with researchers from TAU, Sheba Medical Center and institutions throughout Europe. It was published this month in the academic journal Translational Psychiatry.
The study focused on a protein deposits found in the postmortem brain of a seven-year-old child with autism from Croatia. Notably, the child in question suffered from ADNP syndrome, one of the most common genetic syndromes on the autism spectrum. This condition, caused by a genetic mutation, leads to a deficiency or malfunctioning of the ADNP protein, which is an essential component in brain development. Those who have this syndrome often show intellectual disabilities and severe developmental delays.
While examining the brain, however, the researchers discovered deposits of tau proteins. These are typically found in Alzheimer's patients.
“When we compared the postmortem ADNP syndrome brain tissues to tissue from the brain of a young person without ADNP syndrome, we found deposits of the tau protein in the ADNP child, a pathology that characterizes Alzheimer's disease,” Gozes said in a statement.
The team then focused on essentially treating the damaged nerve-like cells, which carry the ADNP mutation that leads to the syndrome. To do this, they used NAP, a drug candidate that Gozes's lab developed and intended to use to treat Alzheimer's patients. The drug, also called CP201, is currently classified as an "orphan drug" by the US Food and Drug Administration (FDA). It is currently preparing for conducting clinical trials with ADNP syndrome patients, which will be done through the Ness Ziona-based company Coronis Neurosciences, of which Gozes serves as chief science officer.
"NAP is actually a short active fragment of the normal ADNP protein,” Gozes explained. “When we added NAP to the nerve cells carrying an ADNP mutation, the tau protein binds to the nerve cell skeleton properly, and the cells returned to normal function.
"The fact that NAP treatment has been successful in restoring the normal function of neuronal-like cell models with impaired ADNP raises hopes that it may be used as a remedy for ADNP syndrome and its severe implications, including autism. Moreover, because other genetic disorders related to autism are characterized by tau pathologies in the brain, we hope that those suffering from these syndromes will also be able to benefit from NAP treatment in the future.”
The extensive study further sought to expand on their existing knowledge of the causes behind ADNP syndrome. This was done by analyzing several proteins from the child as well as the mRNA (messenger RNA) and comparing it with proteins and cells from other ADNP syndrome patients, as well as using an online database for proteins in healthy individuals.
The results of this analysis found several characteristics common to the ADNP syndrome patients, but vastly different from these proteins' typical appearances.
“The significance of these findings is that the mutation that causes ADNP syndrome damages a wide range of essential proteins, some of which bind to, among other things, the tau protein, and impair its function as well," Gozes stated.
"This creates various pathological effects in the brains (and other tissues) of children with ADNP syndrome, one of which is the formation of tau deposits, known to be a characteristic of Alzheimer's disease. The vast and in-depth knowledge we have accumulated through the present study opens the door to further extensive and diverse research.
"We hope and believe that we will ultimately reach the goal of developing a drug or drugs that will help children with autism resulting from genetic mutations.”