Researchers believe that autism is caused by genetic mutations that occur in the egg or sperm or during pregnancy.
Activity-dependent neuroprotective protein (ADNP) is a dominant gene whose de novo (during pregnancy) mutations are known to cause autism-related intellectual disabilities.
In a new study, researchers found that ADNP mutations continue to occur in old age and accumulate in the brains of Alzheimer’s disease patients.
The research was conducted by a team at Tel Aviv University.
The protein ADNP was first discovered by the team at TAU 20 years ago. Postmortem studies have indicated that it undergoes mutations in aging Alzheimer’s brain.
Brain changes associated with Alzheimer’s disease may begin 20 or more years before any symptoms appear.
As neuronal damage increases, the brain can no longer compensate for the changes, and individuals show cognitive decline.
Currently, the diagnosis of Alzheimer’s occurs when the brain damage of individual patients is already widespread so that current drugs can at most offer symptomatic relief. But they provide no cure.
The team discovered thousands of mutations in aging human brains, especially in the individual Alzheimer’s brains.
They were surprised to find a significant overlap in Alzheimer’s genes undergoing mutations with genes that impact autism, intellectual disability, and mechanisms linked to the cell skeleton/transport system health.
Importantly, the cell skeleton/transport system includes the protein Tau, one of the major proteins affected in Alzheimer’s disease, which forms the toxic neurofibrillary tangles.
The team says a complete sequencing of protein-encoding DNA (a technique called RNA-sequencing) and further bioinformatics analysis are needed.
They also found in cell cultures that a drug could help inhibit mutated-ADNP toxicity and enhanced the healthy function of Tau, a key brain protein involved in Alzheimer’s disease and other brain diseases.
They hope that new diagnostics and treatment modes will be developed based on the discoveries.
One author of the study is Prof. Illana Gozes.
The study is published in Molecular Psychiatry.
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