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Israelis researchers find significant overlap between Alzheimer’s-related mutations and those producing certain intellectual disabilities

Autism-related gene mutations occur in Alzheimer patients



Autism-related gene mutations occur in Alzheimer patientsResearchers believe that autism is caused by mutations in the egg or sperm or during pregnancy, particularly in the activity-dependent neuroprotective protein (ADNP) gene. A new Tel Aviv University study published in Molecular Psychiatry found that ADNP mutations continue to occur in old age and accumulate in the brains of Alzheimer’s disease patients.
“We discovered thousands of mutations in aging human brains, especially in the individual Alzheimer’s brains,” explained lead author Prof. Ilana Gozes. It was in her lab that ADNP was first discovered 20 years ago. “Brain changes associated with Alzheimer’s disease may begin 20 or more years before any symptoms appear,” she said. “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.” Caption to right: Prof. Illana Gozes of Tel Aviv University. Photo: courtesy In their new study, Gozes and her PhD students Yanina Ivashko-Pachima and Adva Hadar, in collaboration with Iris Grigg, Oxana Kapitansky and Gidon Karmon, propose a paradigm-shifting concept in the understanding of Alzheimer’s disease. According to the research, uninherited genetic alterations passed on during cell division promote brain pathology. If so, this could provide an avenue toward developing new diagnostic measures and therapies. -- More...

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