An Experimental Drug for Alzheimer’s May Help Children with Autism

Written on | ,

Tel Aviv University Researchers Discover Alzheimer’s-Like Traits in Autistic Child’s Brain

An extensive international study led by Tel Aviv University, headed by Prof. Illana Gozes of the Department of Human Molecular Genetics and Biochemistry, found deposits of the tau protein typically found in Alzheimer’s patients in tissues taken from the postmortem brain of a 7-year-old autistic child. The child suffered from the ADNP syndrome, an ADNP mutation that causes a deficiency/malfunctioning of the ADNP protein which is essential for brain development. The ADNP syndrome child was characterized by severe developmental delay, intellectual disability, and autism. In light of these findings, the researchers tested an experimental drug called NAP – originally developed for Alzheimer’s disease – on nerve cells in a model of ADNP syndrome with the mutation inducing Alzheimer’s-like symptoms. The experiment was a success, with the damaged nerve – like cells returning to normal function.

The study was conducted in close collaboration with researchers from the Blavatnik School of Computer Science at Tel Aviv University, Sheba Medical Center, and a variety of research institutions across Europe, including the biotechnology institute BIOCEV in the Czech Republic, the Aristotle University of Thessaloniki in Greece, the University of Antwerp in Belgium, and the University Hospital Centre in Zagreb, Croatia. The article was published in July 2020 in the journal Translational Psychiatry printed by the Nature Publishing Group.

Prof. Gozes explains that the current study is based on tissues taken from the brain of a 7-year-old boy with ADNP syndrome who died in Croatia. “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.”

The researchers then “treated” damaged nerve-like cells carrying an ADNP mutation, similar to the deceased child mutation with a drug candidate called NAP, which is developed in Prof. Gozes’s laboratory and originally intended to be used to help treat Alzheimer’s disease. “NAP is actually a short active fragment of the normal ADNP protein,” says Prof. Gozes. “When we added NAP to the nerve cells carrying an ADNP mutation, the tau protein bound to the nerve cell skeleton properly, and the cells returned to normal function.”

Prof. Gozes: “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.” It is important to note that NAP (also called CP201) has been classified as an “orphan drug” by the US Food and Drug Administration, and is currently in the preparatory stages of a clinical trial in children with ADNP syndrome through the company Coronis Neurosciences.

In another phase of the study, the researchers sought to broaden their understanding of the effects of the mutation that causes ADNP syndrome. To do this, they extracted the genetic material mRNA (messenger RNA) from the tissues of the deceased child, and performed an expression analysis of about 40 proteins in the same child, encoded by the mRNA. Full genetic sequencing was also performed to determine protein expression in white blood cells taken from three other children with ADNP syndrome. An in-depth study was carried out on all of the data obtained in the genetic sequencing using advanced bioinformatics computational tools. The data were compared to online databases of protein expression data from healthy individuals, revealing a variety of characteristics that were common to the children with the syndrome, but very different from the normal appearance of these proteins.

Prof. Gozes concludes that “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. 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.”

Featured image: Prof. Illana Gozes

Related posts

Can’t Multitask Anymore?

October 6, 2021

Why Do We Squabble Over The AC?

October 5, 2021

The Immune System’s Double Agents

October 5, 2021

Help A Friend Out?

September 30, 2021

Using ‘Good’ Bacteria to Fight ‘Bad’ Bacteria

September 29, 2021

Recruiting ‘Fighting Cells’ to Destroy Tumors

September 14, 2021

TAU Team Reverses Early Signs of Alzheimer’s

September 10, 2021

Nicotine Testing of Children Curbs Parents’ Smoking

September 5, 2021

Want to Fall in Love? Step Outside in The Sun

August 31, 2021

The Silent Prophets

August 31, 2021

First 3D-bioprinting of entire active tumor

August 18, 2021

New Warning Sign for Breast Cancer

August 6, 2021

COVID-19 Immunity Varies Among Genders and Age Groups

July 26, 2021

Tel Aviv Bats Have More Fun

July 22, 2021

New study found differences between women and men in the level of COVID-19 antibodies

July 15, 2021

A world first: Technology that restores the sense of touch in nerves damaged as a result of amputation or injury

July 15, 2021

TAU Medical Student to Swim for Israel at Summer Olympics

July 15, 2021

New nanotech from TAU produces “healthy” electric current from the human body itself

July 9, 2021

Introducing the world’s thinnest technology – only two atoms thick

July 2, 2021

Want to Live a Long Life? Consider Investing in Your Marriage.

July 2, 2021

A world first: Targeted delivery of therapeutic RNAs only to cancer cells, with no harm caused to healthy cells

June 30, 2021

Combating Antibiotic Resistance

June 22, 2021

Diamonds in the Rough

June 3, 2021

How Will We Brave the Post-COVID Era?

May 31, 2021

Are We Getting to the Root of Cancer?

May 3, 2021

Optical Technology Generates Immediate Melanoma Diagnosis

April 27, 2021

Gut Healing

April 25, 2021

Could Your Smartphone Be Damaging Your Teeth?

April 4, 2021

The Quest for A Lifesaving Cure

March 16, 2021

A Healthier Alternative to Antibiotics

February 24, 2021

Children with Autism during Lockdown: Serious Implications for Behavior and Development

February 22, 2021

Cancer Breakthrough: Cells’ Uniqueness is Also Weakness

January 29, 2021

Two TAU Professors Win 2020 Nature Mentoring Award

December 28, 2020

COVID-19 Takes TAU’s Legal Clinics into High Gear

December 7, 2020

Lack of Teacher Support during Pandemic Causes Acute Emotional Harm

December 4, 2020

New Discovery: Development of the Inner Ear in Embryos is Similar to Crystal Formation

November 26, 2020

In First, Aging Stopped in Humans: TAU Co-Study

November 23, 2020

TAU developed genome editing system destroys cancer cells

November 20, 2020

TAU Co-Study: “Green Revolution” Decreased Infant Mortality

November 17, 2020

Study: Women Suffer More from COVID-related Orofacial Pain

November 12, 2020

TAU Prof. Wins Schmidt Science Polymath Award

October 26, 2020

Global First: Center for Combating Pandemics

October 22, 2020

Researchers Identified the Genetic Causes of Inherited Hearing Loss in the Jewish Population of Israel

September 30, 2020

Targeting Melanoma

September 9, 2020

TAU Inaugurates Shmunis School of Biomedicine and Cancer Research

September 8, 2020

How the parents’ environment impacts the lives of their offspring

September 2, 2020

Does our Brain like risk?

August 31, 2020

Physical exercise can help improve both physical and mental health

August 31, 2020

New school for Biomedicine and Cancer Research at Tel Aviv University

August 13, 2020

Tel Aviv University Scientists Successfully Reduce Metastatic Spread Following Tumor Removal Surgery

August 11, 2020

Pursuing the Unknown

Copyright ©  Tel Aviv University Trust. All rights reserved.
Registered charity number 314179.