The study, conducted by researchers from the Brigham and Women's Hospital in Boston, USA, is published December 19 in the open-access journal PLoS Genetics .

Diabetes is a leading cause of morbidity and mortality in both the developed and developing world. Because the main metabolic characteristic of diabetes is increased blood glucose concentration, the researchers sought to uncover the genetic determinants of glycated hemoglobin. Lead author Guillaume Par?© and his team analyzed glycated hemoglobin concentration in a subset of 14,618 women from the Women's Genome Health Study, a large-scale study seeking to identify patterns of genetic variations that predict future disease states in otherwise healthy American women.

Using new technologies to study genetic variation on a whole genome basis, the group found that variations at the hexokinase-1 gene are an important determinant of glycated hemoglobin concentrations. Hexokinase-1 encodes the enzyme hexokinase, responsible for the first metabolic step in glucose utilization and a likely candidate for the control of glucose metabolism.

While further work will be needed to fully understand the metabolic role of these genetic variants, it is hoped that this discovery could lead to a better understanding of the mechanisms underlying diabetes and its complications.

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The researchers discovered the MACC1 gene by comparing tissue from healthy persons with tissue from 103 patients with colon cancer between 20 to 88 years of age. Sixty (60) cancer patients had no metastasis at the time they underwent surgery.

Of these 60 patients, 37 had no metastasis five years after surgery and treatment. These patients were shown to have had low levels of MACC1 when first diagnosed with colon cancer. In contrast, 23 patients had developed metastasis in the course of five years after surgery. Researchers detected high levels of MACC1 in their colon cancer tissue. Thus, patients with high MACC1 levels have a much higher risk for developing metastasis than patients with a MACC1 gene that is not very active.

The researchers are convinced that MACC1 will enable physicians to decide if a patient needs a more intense therapy or if a less aggressive treatment is sufficient. "The expression analysis of MACC1 in the original tumor tissue will probably contribute to individualize and optimize colon cancer therapy", they assume.

Now the MDC and Charite researchers and their colleagues want to find out if the MACC1 gene also allows for a more precise prediction about the outcome of lung cancer, breast cancer, and stomach cancer.

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