Press Release

Mount Sinai Researchers Identify Genetic Markers Linking Risk for Both Type 2 Diabetes and Alzheimer’s Disease

New York
(July 16, 2015)

Certain patients with type 2 diabetes (T2D) may have specific genetic risk factors that put them at higher risk for developing Alzheimer’s disease (AD), according to a study conducted at the Icahn School of Medicine at Mount Sinai and published recently in Molecular Aspects of Medicine.

Under the leadership of Giulio Maria Pasinetti, MD, PhD, Saunders Family Chair and Professor of Neurology at the Icahn School of Medicine at Mount Sinai and Director of Biomedical Training in the Geriatric Research Education and Clinical Centers at J.J. Peters Bronx VA Medical Center, the study team used recent genome wide association study (GWAS) findings to investigate whether T2D and AD share common genetic etiological factors and the potential impact of these genetic factors on the cellular and molecular mechanisms that may contribute to the development of both these diseases.

GWAS look at differences at many points in the genetic code to see if, across a population, one or more variations in the code are found more often in those with a given trait (for example, high risk for a disease). Even the smallest genetic variations, called single nucleotide polymorphisms (SNPs), can have a major impact on a trait by swapping just one of the 3.2 billion “letters” that make up the human DNA code.

One of the major long-term complications of T2D is an increased risk for developing AD. While previous studies strongly suggested a causative role of diabetes in the onset and progression of AD dementia, the specific mechanistic interactions connecting diabetes and AD had not been previously described.

“We identified multiple genetic differences in terms of SNPs that are associated with higher susceptibility to develop type 2 diabetes as well as Alzheimer’s disease,” says Dr. Pasinetti. “Many of these SNPs are traced to genes whose anomalies are known to contribute to T2D and AD, suggesting that certain diabetic patients with these genetic differences are at high risk for developing Alzheimer’s. Our data highlights the need for further exploration of genetic susceptibility to Alzheimer’s disease in patients with T2D.”

An estimated 312 million people suffer from T2D worldwide, exerting enormous burdens on individuals and on health care systems. Similarly, AD affects nearly 45 million people worldwide and is costly to both individuals and healthcare systems. There is currently no cure for either condition.

Mounting evidence suggests that AD dementia can be traced back to pathological conditions, such as T2D, that are initiated several decades before clinical AD onset. Since T2D is one of the potentially modifiable risk factors for AD, it is critically important for scientists to uncover the genetics of this complex connection so that new therapeutic interventions may be developed and targeted to at-risk individuals with T2D prior to the onset of AD dementia.

This study will support ongoing research applications to further explore genetic susceptibility in patients with T2D for developing AD and help improve the design of future novel treatments for a subpopulation of T2D subjects with genetic predisposition to AD, which could benefit T2D and reduce the risk for subsequent development of AD. Outcomes from these studies identifying cellular abnormalities common to both T2D and AD can lead to the development of T2D therapies that may also help prevent subsequent development of AD in genetically predisposed individuals.

This work is supported in part by the Altschul Foundation.

“Shared genetic etiology underlying Alzheimer’s disease and type 2 diabetes,” by Ke Hao, Antonio Fabio Di Narzo, Lap Ho, Wei Luo, Shuyu Li, Rong Chen, Tongbin Li, Lauren Dubner, and Giulio Maria Pasinetti (DOI: 10.1016/j.mam.2015.06.006), published online in Molecular Aspects of Medicine by Elsevier.

A copy of the paper is available to credentialed journalists upon request by contacting Elsevier’s Newsroom at newsroom@elsevier.com or +31 20 4853564.

About Molecular Aspects of Medicine – The official Journal of the International Union of Biochemistry and Molecular Biology. As a review journal for Physicians and Biomedical Scientists, Molecular Aspects of Medicine, bridges the gap between clinicians of all relevant specialties and biomedical scientists working in areas from biochemistry and molecular and cell biology to physiology, pharmacology and pathology. www.journals.elsevier.com/molecular-aspects-of-medicine

Tags: Genetics, Icahn School of Medicine at Mount Sinai, Mount Sinai Health System, Research

About the Mount Sinai Health System

Mount Sinai Health System is one of the nation’s leading integrated academic health systems and one of the largest in the New York metropolitan area. Its comprehensive system includes seven hospitals, more than 400 outpatient practices, over 600 research and clinical laboratories, the Icahn School of Medicine at Mount Sinai, the Graduate School of Biomedical Sciences, and the Mount Sinai Phillips School of Nursing. Together, the Health System comprises approximately 48,000 employees, more than 9,000 physicians, and 8,600 nurses.

As a leading learning health system, Mount Sinai combines clinical expertise with scientific discovery to improve patient care while training the next generation of health care and biomedical leaders. The Health System provides care across every stage of life, from prenatal care through geriatrics, while advancing personalized medicine through artificial intelligence, data science, and biomedical research.

Mount Sinai is consistently recognized among the nation’s leading academic health systems for patient care, research, and education. The Mount Sinai Hospital is ranked No. 1 in New York by Newsweek and No. 5 on the magazine’s World’s Best Hospitals list. The Icahn School of Medicine at Mount Sinai ranks No. 11 among U.S. medical schools and No. 1 among freestanding medical schools for National Institutes of Health funding, reflecting the strength of its scientific enterprise and leadership in biomedical research.