alzheimer's autism

Alzheimer’s and Autism: Researchers Pinpoint Genetic Mutations Overlapping in Both Diseases

By Lecia Bushak | November 26th, 2019

As the quest to understand the complexities of Alzheimer’s continues, researchers have now identified genetic mutations related to autism that may play a role in the neurodegenerative disease as well.

The study, out of Tel Aviv University, pinpointed thousands of genetic mutations in aging human brains that overlapped with mutations involved in autism and intellectual disability. They also found that many of these mutations occurred in the cell skeleton/transport system, a network of proteins that help organize cells.

“We were surprised to find a significant overlap in Alzheimer’s genes undergoing mutations with genes that impact autism, intellectual disability and mechanisms associated with the cell skeleton/transport system health,” Illana Gozes, lead author of the study, said in a news release. “Importantly, the cell skeleton/transport system includes the protein Tau, one of the major proteins affected in Alzheimer’s disease, which form the toxic neurofibrillary tangles”

Two decades ago, Gozes and the team at the laboratory discovered a protein known as ADNP. ADNP is mainly known for its connection to ADNP syndrome, a neurodevelopmental disorder that includes intellectual disability and autism spectrum disorder. But the team of researchers identified that ADNP also experiences mutations in the brains of people with Alzheimer’s.

Gozes built on that in the latest study, which aimed to create a “paradigm shift” in how people understand Alzheimer’s. That viewpoint focuses on how genetic alterations that are not inherited, known as mosaic somatic mutations, lead to brain pathology and disease.

The researchers hope the research will help lead to new therapeutic channels down the road.

“We found in cell cultures that the ADNP-derived snippet, the drug candidate NAP, inhibited mutated-ADNP toxicity and enhanced the healthy function of Tau,” Gozes said. “We hope that new diagnostics and treatment modes will be developed based on our discoveries.”

Genetics continues to be a large area of research around Alzheimer’s and dementia. Recently, researchers discovered that a genetic mutation known as APOE3ch delayed a woman’s high risk of developing Alzheimer’s by three decades.

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