Monthly Archives: January 2014

Current ratings for: Single faulty gene causes major type 2 diabetes symptom in mice

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New research from the US reported in the journal Diabetes, shows that the loss of just one gene in mice is enough to cause fasting hyperglycemia - a major symptom of type 2 diabetes.

In their paper, researchers from the College of Medicine at the University of Illinois at Chicago (UIC) explain how malfunctions in insulin-producing pancreatic beta cells is a common feature of type 2 diabetes.

Lead author Bellur S. Prabhakar, professor and head of microbiology and immunology at UIC, says they found that when a gene called MADD is not working properly, insulin is not released into the bloodstream. Lack of insulin means the body is unable to regulate blood sugar or glucose - a major feature of diabetes.

About 8% of Americans and more than 360 million people around the world have type 2 diabetes, a disease that in turn can lead to more serious conditions like cardiovascular disease, kidney failure, blindness, and loss of limbs.

In healthy people without diabetes, the beta cells of the pancreas release insulin into the bloodstream to help regulate blood sugar levels which rise after eating.

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Single faulty gene causes major type 2 diabetes symptom in mice

A study that made its way from the Middle East to New York has identified a gene mutation found in those of African descent, shedding some light on why a significant number of black people are predisposed to certain diseases. NY1's Erin Billups filed the following report.

Too much fat or triglycerides in the blood stream leads to heart disease, type 2 diabetes, obesity and stroke are all diseases that are are found at higher rates among people of African ancestry.

Ronald Crystal, chair of Genetic Medicine at Weill Cornell Medical College, says they've found a genetic variation they believe is partially responsible.

"When we looked at the medical literature we found that it had been discovered 20 years ago but was thought to be a very rare mutation," says Dr. Crystal.

It turned out this mutation of a protein gene called Apo-E was relatively common among people native to the Middle Eastern country Qatar.

"Apo-E is a gene that we all have. It codes for a protein that helps us carry fats in our blood," explains Dr. Crystal.

The mutation they discovered in Qatari with African ancestry increases the amount of fat in the blood.

"So we then looked in Africans, and we found that in fact the mutation was pretty common in the Africans as well. Then we transferred the concept to New York. And it turns out it was pretty common in African Americans," says Dr. Crystal.

They looked at the DNA of 2,000 black New Yorkers, the largest study of the three.

"What it means is that four out of 100 New York African Americans have a mutation that will increase the levels of fats, specifically triglycerides in their blood. It's a mild increase, and it's only one little part of the whole puzzle," explains Dr. Crystal.

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Gene Mutation Increases Certain Health Risks For Blacks, Study Finds

As scientists get closer to using embryonic stem cells in new treatments for blindness, spinal cord injuries and heart disease, a U.S. legal debate could determine who profits from that research.

Consumer Watchdog, a nonprofit advocacy group, wants an appeals court to invalidate a University of Wisconsin-Madisons patentfor stem cells derived from human embryos, saying its too similar to earlier research. The Santa Monica, California, group also says the U.S. Supreme Courts June ruling limiting ownership rights of human genes should apply to stem cells, a potentially lucrative field for medical breakthroughs.

The challenge to Wisconsin Alumni Research Foundation, the universitys licensing arm, is about whether patents help or hinder U.S. stem-cell research, which has been stymied by political debate. The consumer group says it drives up the cost of research by requiring companies and some academics to pay a licensing fee to the university.

What were asking the government to do is say WARF has no right to the patent, said Dan Ravicher, executive director Public Patent Foundation in New York, which is handling the challenge for Consumer Watchdog. Its like the government sent a check to WARF they didnt deserve.

Consumer Watchdog lost a challenge at the U.S. Patent and Trademark Office in January 2013. It wants the Court of Appeals for the Federal Circuit in Washington to review that decision and consider new arguments based on the Supreme Courts finding that genes -- like stem cells -- are a natural material that cant be patented. Beyond the science question, the case has become a flashpoint over how far members of the public can go to invalidate patents on policy grounds.

While the patent expires in April 2015 and the university has other stem-cell-related patents, Consumer Watchdog is continuing a six-year battle to invalidate it because stem-cell research is starting to get some traction into therapeutic uses, Ravicher said.

The promise of embryonic stem cells is to create or repair tissues and organs using material taken from eggs fertilized in the laboratory. The cells created can be replicated indefinitely, and with the right biological cues, may aid in treating damaged heart tissue and spinal cords, or generate therapies for diabetes and cancer. Companies like StemCells Inc. (STEM) and Advanced Cell Technology Inc. are testing therapies to treat macular degeneration, a cause of blindness.

The next paradigm shift in medicine will be advances in cell therapy -- its under way, said Jason Kolbert, senior biotechnology analyst with Maxim Group LLC in New York. He said pharmaceutical makers such as Teva Pharmaceutical Industries Ltd. (TEVA) of Petach Tikva, Israel, and Pfizer (PFE) Inc. of New York are working with stem-cell researchers on new therapies.

Stem-cell science in the U.S. was curbed in 2001 when then-President George W. Bush issued an executive order limiting research to existing cell lines amid controversy over human embryo destruction, even though they were never in a womans uterus. President Barack Obama reversed that order in 2009.

Some scientists have avoided the public debate by using adult cells to find the unlimited potential they have in embryonic cells.

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Gene Patent Case Fuels U.S. Court Test of Stem Cell Right