BALTIMORE—May 9, 2016—The Lieber Institute for Brain Development (Lieber Institute), an affiliate of the Johns Hopkins University School of Medicine, and AstraZeneca today released the results of an original study that could lead to the discovery of new treatments for schizophrenia and related neuropsychiatric disorders.
Advances in genome-wide association studies have provided scientists with the ability to link different regions of the genome to increased risk for developing neuropsychiatric disorders, but the specific mechanisms that lead to disease remain unknown. The Lieber Institute and AstraZeneca study is the first to identify a human-specific form of a protein related to AS3MT that represents new insight into the causative mechanisms of schizophrenia and related disorders, including depression, bi-polar disorder, and attention deficit hyperactivity disorder. Lieber Institute and AstraZeneca Neuroscience iMed scientists demonstrate that over-expression of this previously unknown version of the protein AS3MT, called AS3MTd2d3, is related to increased genetic risk for psychiatric disorders and is also increased in the brains of patients with schizophrenia and depression in comparison to the brains of normal subjects.
The study, published today in the journal Nature Medicine, is titled “A human-specific AS3MT isoform and BORCS7 are molecular risk factors in the 10q24.32 schizophrenia locus.” The paper can be found online here: http://nature.com/articles/doi:10.1038/nm.4096
In order to better understand the consequences of over-expression of this protein, investigators at the Lieber Institute, in partnership with scientists at AstraZeneca’s Neuroscience iMed, are building cell and animal models to determine what the protein does to developing and mature neurons. Already the team has used human brain tissue and human stem cell models to show this new protein is “turned on” during early brain development, the period in which cells decide to become brain-specific cells. The discovery provides investigators with a more meaningful path that could ultimately lead to novel treatments for schizophrenia and other developmental brain disorders.
“We are strongly encouraged by the results of this study and are moving forward with a series of experiments designed to further characterize this new, human-specific protein that we identified in the human brain and in human nerve cells,” said LIBD Director and CEO Daniel R. Weinberger, M.D. “We are exploring new models of the mechanism to better understand its role in brain development.”
Lieber Institute scientists are partnering with an AstraZeneca Neuroscience iMed team to define how this protein influences brain development.
“Given the complexity of schizophrenia and other neurological diseases, this is a great finding representing the first step in a research process that may one day lead to novel treatments for patients,” said Nick Brandon, head of discovery at AstraZeneca’s Neuroscience iMed.
About the Lieber Institute for Brain Development
The mission of the Lieber Institute for Brain Development and the Maltz Research Laboratories is to translate the understanding of basic genetic and molecular mechanisms of schizophrenia and related developmental brain disorders into clinical advances that change the lives of affected individuals. LIBD is an independent, not-for-profit 501(c)(3) organization and a Maryland tax-exempt medical research institute affiliated with the Johns Hopkins University School of Medicine. For more information please visit: www.libd.org.
About AstraZeneca
AstraZeneca is a global, innovation-driven biopharmaceutical business that focuses on the discovery, development and commercialization of prescription medicines, primarily for the treatment of cardiovascular, metabolic, respiratory, inflammation, autoimmune, oncology, infection and neuroscience diseases. AstraZeneca operates in over 100 countries and its innovative medicines are used by millions of patients worldwide. For more information please visit: www.astrazeneca.com. For further information on AstraZeneca Neuroscience, please visit: www.azneuro.com.
Media Contacts
Becky Oldham
410-955-1000, [email protected], @LieberInstitute