RESEARCHERS FIND CAUSE FOR NEONATAL DIABETES

Main Menu | News By Date | News By Supplier | News By Category | About Us

RESEARCHERS FIND CAUSE FOR NEONATAL DIABETES
11 August 2007 - University of Chicago

In a report in The New England Journal of Medicine, an international team of researchers from Chicago, the University of Bergen, Norway, and the San Raffaele Scientific Institute, Italy, describes two cases of neonatal diabetes resulting from a complete deficiency of glucokinase, an enzyme that plays a crucial role in the regulation of blood-sugar levels.

Permanent neonatal diabetes mellitus is a rare disorder, occurring in about one in 400,000 live births. The two female children described in the journal paper, one Norwegian, the other Italian, required insulin treatment beginning soon after birth.

“We believe this is the most common cause of permanent neonatal diabetes and urge physicians to look for glucokinase mutations in infants with diabetes, especially if the child has relatives with elevated blood sugar,” said senior author Graeme Bell, the Louis Block Professor in Biochemistry & Molecular Biology, Medicine and Human Genetics.

In 1992, Bell led a team that discovered that glucokinase mutations were one cause of a sub-type of diabetes called maturity onset diabetes of the young, or MODY. That defect appears to be relatively common and underdiagnosed.

“Finding glucokinase mutations that result in relatively mild disease as well as severe neonatal diabetes makes us suspect that there is a spectrum of glucose-regulation disorders that can be traced to different abnormalities of this gene,” said Bell.

Both children described in the journal paper have mutations in both of their copies of the glucokinase gene. The mutations, however, are different in these two children. The Italian girl has two copies of a different mutation of the glucokinase gene than the Norwegian girl. But tests showed that both the Norwegian and Italian mutations rendered the enzyme inactive. Neither child with neonatal diabetes secretes any insulin.

The genetics of diabetes have proved to be very complex. Bell’s team has isolated four different genes that cause MODY, and last year pinpointed the first of several genes that increase susceptibility to the most common form of diabetes.

“This new role for glucokinase is another piece of the puzzle,” Bell said. Not only are there many genes involved, but also “different mutations and combinations may cause differing forms of the disease.”

Researchers from the University of Pennsylvania; the National Hospital, Oslo, Norway; and Vanderbilt University, Nashville, Tenn., contributed to this study.

http://www-uchicago.edu

About: University of Chicago
The University of Chicago was founded in 1890 by the American Baptist Education Society and oil magnate John D. Rockefeller. The land for the new university, in the recently annexed suburb of Hyde Park, was donated by Marshall Field, owner of the Chicago department store that bears his name.

In 1929, Robert Hutchins became the University's fifth president. During his tenure, Hutchins established many of the undergraduate curricular innovations that the University is known for today. These included a curriculum dedicated specifically to interdisciplinary education, comprehensive examinations instead of course grades, courses focused on the study of original documents and classic works, and an emphasis on discussion, rather than lectures.

During the late 1950s and early 1960s, the University began to add modern buildings to the formerly all-Gothic campus.

More News:
  • For August 2007
  • From University of Chicago
  • For University