Overview

Type 1 and type 2 diabetes share a name and a common element: insulin. Otherwise they’re quite different.

Most commonly diagnosed in children and young adults, Type 1 diabetes is an autoimmune disease, meaning that the body’s immune system attacks healthy tissue. In type 1 diabetes, the attack is specific to the cells that secrete insulin in the pancreas, necessitating daily doses of insulin. There is as yet no way to prevent or cure the disease.

Type 1 diabetes involves the interaction of many genes, with as many as 30 to 40 genes involved. David Serreze, Ph.D. investigates the ways in which the genes contribute to the normal development of the immune system and malfunctions lead to type 1 diabetes.

Research

Not only are researchers at The Jackson Laboratory working to better understand the genetic basis of diabetes, they are enabling collaborative research worldwide through development of laboratory mice bred to mimic diabetes in humans.

Collectively, these efforts are advancing the search for solutions that can only come through better understanding of the genetic components of diabetes .

After studying type 1 diabetes at Jackson for nearly 25 years, David Serreze describes the disease as "a geneticist’s nightmare" by virtue of its complexity.

"Type 1 diabetes involves many, many interactive genes, with 30 to 40 contributing to the disease," he said. "The highest incidence is among people of northern European extraction, especially those from Finland. As the world becomes a more international place, what happens when a Finn marries a Brazilian in terms of the genomes of their children getting more and more complicated? As these different genetic combinations can contribute to diabetes, the reality of a heterogeneous human population is nightmare number one."

Serreze’s research is also exploring the hypothesis that the autoimmune response that destroys insulin-producing cells within the pancreas involves gene variations that, as humans evolved, once offered protection against infectious diseases that are no longer a threat.

"These are common variants that, under infectious pressure, can do good things. Under other conditions, they do something bad," he said. "As long as those pathogens were in place, these genes contributed to a potent immune response to those infectious agents. With that pressure removed, these genes may be contributing to an autoimmune dark side."

Resources

• Juvenile Diabetes Research Foundation International (JDRF)
• U.S. Centers for Disease Control and Prevention
• Maine Center for Disease Control and Prevention
• Joslin Diabetes Center
• Diabetes Action: Research and Education Foundation
• Diabetic Exercise & Sports Association
• Mendosa.com - Writer specializing in diabetes, comprehensive list of diabetes resources
• American Diabetes Association (ADA)
  • Current diabetes research (ADA)
  • The genetics of Diabetes (ADA

Personal Connections

Nick Boynton, a scrappy defenseman for the National Hockey League’s Florida Panthers, was 20 when he was diagnosed with type-1, insulin-dependent diabetes.

"I was really, really sick for two or three months," he says. "My doctor misdiagnosed me as type 2 and put me on pills. The pills didn’t work, and I kept losing weight. I probably lost 35 pounds and actually saw doctors here in Boston, and they finally diagnosed me correctly as type 1. I was worried it was something else.

"It’s a scary disease, but, as long as you have a good doctor and you’re in control, it’s something that can be managed and managed well."

Boynton’s great-grandmother died of complications of diabetes. His two young daughters, ages 1 and 3, have been screened but don’t show signs of the chronic, lifelong disease.