Experimental Alzheimer’s Drug May Help Kids with Autism

AHA Publisher — Wed, 26 Aug 2020 07:00:20 +0000

Abigail Klein Leichman via Israel21c – An experimental drug called NAP – originally developed for Alzheimer’s disease at Tel Aviv University – could help children with a type of autism caused by ADNP syndrome, a genetic mutation characterized by mental impairment. NAP (also called CP201) was invented by Prof. Illana Gozes of the Department of Human Molecular Genetics and Biochemistry. Twenty years ago, Gozes’ lab discovered the activity-dependent neuroprotective protein (ADNP) gene and its link to autism. Last December, ISRAEL21c reported on Gozes’ groundbreaking discovery that mutations of ADNP accumulate in the brains of Alzheimer’s patients. “NAP is actually a short active fragment of the normal ADNP protein,” said Gozes. When NAP was added to the nerve cells of mice carrying an ADNP mutation, the protein bound to the nerve cell 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,” she said. Because other genetic disorders related to autism are characterized by similar pathologies in the brain, “we hope that those suffering from these syndromes will also be able to benefit from NAP treatment in the future.” NAP has been classified as an “orphan drug” by the US Food and Drug Administration. It is in the preparatory stages of a clinical trial in children with ADNP syndrome through the Israeli company Coronis Neurosciences, of which Gozes is chief scientific officer. Treatment with the experimental drug is hoped to aid cognitive improvement in these children and enhance their memory and learning skills. “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,” said Gozes. The results of the international study she led showing the deposits of a particular protein in the brain of Alzheimer’s patients and in tissues taken from the postmortem brain of a 7-year-old autistic child in Croatia were published recently in the journal Translational Psychiatry. To read the original article click here. For more articles from Israel21c click here.

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Researchers Identify New Genetic Tool That Can Help Treat Certain Cancers

AHA Publisher — Tue, 28 Jul 2020 07:00:30 +0000

University of California-San Diego via News-Medical Net – With advances in genome sequencing, cancer treatments have increasingly sought to leverage the idea of “synthetic lethality,” exploiting cancer-specific genetic defects to identify targets that are uniquely essential to the survival of cancer cells. Synthetic lethality results when non-lethal mutations in different genes become deadly when combined in cells. In a new paper published online July 27, 2020, in the Proceedings of the National Academy of Sciences (PNAS), researchers at the San Diego branch of Ludwig Institute for Cancer Research and University of California San Diego School of Medicine report that inhibiting a key enzyme caused human cancer cells associated with two major types of breast and ovarian cancer to die and in mouse studies reduced tumor growth. The research team, led by senior study author Richard D. Kolodner, PhD, Distinguished Professor of Medicine and Cellular and Molecular Medicine and member of the Ludwig Institute for Cancer Research San Diego Branch, studied Saccharomyces cerevisiae, a species of yeast used in basic research, to search for synthetic lethal relationships. They zeroed in on Flap Endonuclease 1 (FEN1), a DNA structure-specific endonuclease involved in DNA replication and repair. Turning their attention to cancer cells, they found that when they blocked functions of FEN1 using either a small molecule inhibitor or genetic ablation, BRCA1 and BRCA2 mutant cancer cell lines were preferentially killed. Notably, normal cells were able to recover from FEN1 inhibition. BRCA1 and BRCA2 genes normally act to prevent breast and ovarian cancer as well as other cancers, but when mutated, may cause a person to be more likely to develop breast or ovarian cancer or develop cancer at a younger age. Less than 10 percent of women diagnosed with breast cancer have a BRCA mutation, but it’s estimated that 55 to 65 percent of women with the BRCA1 mutation will develop breast cancer before age 70 while approximately 45 percent of women with a BRCA2 mutation will develop breast cancer by age 70, according to the National Breast Cancer Foundation. Similarly, women with inherited BRCA mutations have an increased risk of developing ovarian cancer and men with inherited BRCA mutations have increased risk of developing breast and prostate cancer. Breast cancer is the most common type of cancer in the United States, with approximately 276,000 new cases per year, according to the National Cancer Institute. Prostate cancer is the fourth most common, with 191,930 new cases and ovarian is 17th, with an estimated 21,750 new cases annually, according to the National Cancer Institute. Kolodner and colleagues then tested the approach in an immune-compromised mouse xenograft model, and found that FEN1 inhibition significantly reduced tumor growth. The researchers say their findings are significant in two ways: They underscore the value of using S. cerevisiae yeast as a genetics tool for discovering synthetic lethality relationships and identify FEN1 inhibitors as a possible therapeutic agent to further develop for treating certain cancers with targeted vulnerabilities. To read the original article click here.

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Experimental Alzheimer’s Drug May Help Kids with Autism

Researchers Identify New Genetic Tool That Can Help Treat Certain Cancers