President & CEOOfficers of the CorporationBoard of TrusteesFoundation BoardLeadership CouncilAbout Joslin ResearchAdvocacy & Gov't AffairsHistory
Newly DiagnosedManaging DiabetesChildhood DiabetesNutritionExerciseOnline Diabetes ClassesDiscussion BoardsJoslin Clinical ResearchInfo for Healthcare ProfessionalsJoslin Clinical Guidelines
Make an AppointmentAdult ClinicYoung Adult Transition CarePediatricsEye CareWeight Management ProgramsDO ITMental Health & CounselingReferring PhysiciansBillingAfrican American ProgramsAsian ClinicLatino Diabetes InitiativeAbout Joslin ResearchVolunteer for Clinical Research StudiesInfo for Healthcare ProfessionalsClinical Guidelines
Directory of Joslin InvestigatorsDiabetes Research Center Alumni ConnectionVolunteer for Clinical Research Studies
Media RelationsNews ReleasesInside Joslin
Affiliated CentersPharma & DeviceCorporate EducationPublicationsProfessional EducationInternationalCause MarketingHealthcare ProfessionalsCommercialization and VenturesJoslin Institute for Technology Translation (JITT)
Give NowHigh Hopes FundWays to GivePlanned GivingEventsGet InvolvedCorporate & Foundation SupportOur DonorsDevelopment Team

Mary-Elizabeth Patti, M.D.

Dr. Patti is an Investigator in the Section on Integrative Physiology and Metabolism, Director of the Genomics Core Laboratory and a clinical endocrinologist. She received her medical degree from Jefferson Medical College in Philadelphia, Penn. She completed internal medicine residency at the University of Pittsburgh, and clinical and research training in Endocrinology and Metabolism in the joint Harvard/Longwood program. Dr. Patti received the Mary K. Iacocca Fellowship in 1995 and the American Diabetes Association’s Marios Balodimos Award (Massachusetts Affiliate) for her research in nutritional modulation of insulin action.

The incidence of type 2 diabetes is dramatically rising in the United States and worldwide, particularly among children, so prevention of the disease is an important public health task. Dr. Patti's long-term research goal  is to identify the underlying cellular and molecular mechanisms that increase the risk of diabetes, and to facilitate the development of drug and nutritional therapies to reduce this risk. Because both genetic and environmental risk factors for diabetes—including obesity, inactivity and low birth weight—converge to influence gene and protein expression, Dr. Patti hypothesizes that changes in gene expression in high-risk but healthy individuals are present years before the onset of diabetes. Identification of key genes responsible for diabetes risk should advance development of new prevention strategies and more effective treatment of established diabetes. 

Dr. Patti’s laboratory first identified a group of genes that play an important role in the development of type 2 diabetes. These genes are related to the function of the mitochondria (part of the cell involved in burning fuel for energy) in muscle, which is the major tissue that regulates the ability of insulin to control glucose levels. In people with diabetes and those at risk, the function of these genes is impaired so that the cell does not burn fat and other fuels normally. This dysfunction allows fat to accumulate in the cells and impairs the cell’s normal response to insulin.

Moreover, Dr. Patti’s lab discovered that the expression of several other genes—notably NRF1 and PGC1—which control this larger group of diabetes-related genes—is also changed in people with diabetes and those at risk of developing the disease. For this work, Dr. Patti received research funding from the National Institutes of Health. She is also a Co-Investigator in the Diabetes Genome Anatomy Project, a multicenter project focusing on genomic approaches to diabetes pathogenesis.

In ongoing research, Dr. Patti focuses on how various diabetes risk factors—including obesity, family history of diabetes and an inactive lifestyle—alter gene expression; result in a problem in burning fuels for energy in fat, muscle and liver; and cause an inability to respond to insulin. She and her colleagues are analyzing and trying to define the links between changes in genes that confer diabetes risk and classical metabolic/biochemical pathways in muscle.

On a broader scale, Dr. Patti is also studying why low birth weight increases risk of diabetes in later life, and how improvements in nutrition during early life may help reduce this risk. The hope is that both of these studies will ultimately aid in the development of drugs and dietary approaches to prevent diabetes in high-risk patients.

Selected References
Goldfine AB, Crunkhorn S, Costello M, Gami H, Landaker EJ, Niinobe M, Yoshikawa K, Kahn CR Lo D, Warren A, Jimenez-Chillaron J, Patti ME.  Necdin and E2F4 are modulated by rosiglitazone therapy in diabetic human adipose and muscle tissue. Diabetes 55:640-650, 2006. 

Jimenez-Chillaron JC, Hernandez-Valencia M, Lightner A, Faucette RR, Reamer C, Przybyla R, Ruest S, Barry KOtis JP, Patti ME.  Reductions in caloric intake and early postnatal growth prevent low birth weight-associated glucose intolerance and obesity. Diabetologia2006, in press

Jimenez-Chillaron JC, Hernandez-Valencia M, Reamer C, Fisher S, Joszi A, Hirshman M, Oge A, Walrond S, Przybyla R, Boozer C, Goodyear LJ, Patti ME.  ß-cell secretory dysfunction in the pathogenesis of low birth weight-associated diabetes:  a murine model. Diabetes 54:702-711, 2005.

Patti ME, McMahon G, Mun EC, Bitton A, Holst JJ, Goldsmith J, Hanto DW, Callery M, Arky R, Nose V, Bonner-Weir S, Goldfine AB. Severe hypoglycemia post-gastric bypass requiring partial pancreatectomy: evidence for inappropriate insulin secretion and pancreatic islet hyperplasia. Diabetologia 48:2236-2240, 2005.

Patti ME, Butte AJ, Crunkhorn S, Cusi K, Berria R, Kashyap S, Miyazaki Y, Kohane I, Costello M, Saccone R, Landaker EJ, Goldfine AB, Mun E, DeFronzo R, Finlayson J, Kahn CR, Mandarino LJ. Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: potential role of PGC1 and NRF1. Proc Natl Acad Sci U S A 100:8466-8471, 2003.

Patti

Page last updated: July 29, 2014