New study identifies gene implicated in Alzheimers disease

Alzheimers disease is a devastating and progressive neurodegenerative disorder characterized by rapidly declining memory motor skills personality speech and personality-related cognitive difficulties. Novel gene mutations that modulate simple metabolism throughout the body may result in a novel therapeutic target for Alzheimers disease.

A large-scale genetic study by Maryland researchers identified and mapped gene transcription signatures activated during hippocampal-induced hypometabolism (HILM) in mice. The findings being published in Cell Reports suggest the involvement of the brains mitochondrial gene MITF in Alzheimers disease and highlight MITF as a potential patient therapeutic target.

Because of the growing awareness that Alzheimers disease is a disease in which basic mechanisms and metabolic processes are not fully revealed we want the MITF study to have a profound impact in the treatment of humans and for the development of new approaches for human models of Alzheimers disease said Felipe Martnez PhD associate professor of neuroscience Department of Medicine and Pediatrics (University of Texas MD Anderson) and senior author of the study.

This study was led by Martnez and Melanie Serrat PhD the recipient of a 2018 Breakthrough Prize in Neuroscience and Clinical Development in which a 2 million prize is raised by the Intel Foundation for Institute for Advanced Science and Technology. The research was funded by a grant from the National Institutes of Health National Institute of Aging and National Institute on Aging (UNI) and the National Institute of Neurological Disorders and Stroke (NINDS) part of the National Institutes of Health.

There is a shortage of brain models in Alzheimers disease and no animal model suitable for clinical examination exists as there are no known genetic or structural mutations associated with familial Alzheimers disease said Felipe Martnez PhD Tees Discovery Institute. In addition the model-development pipeline in Alzheimers disease is severely lacking as their cell- and protein-replacement experiments are limited. A huge effort is needed to expand the number of animals to include as many as 32 known genetic mutations and mutations of the brain that have been linked to Alzheimers disease.