Rare Gene Found to Protect Against Type 2 Diabetes

[IDemo]

Source: New York Times

A new study based on genetic testing of 150,000 people has found a rare mutation that protects even fat people from getting Type 2 diabetes. The effect is so pronounced — the mutation reduces risk by two-thirds — that it provides a promising new target for developing a drug to mimic the mutation’s effect.

The mutation destroys a gene used by pancreas cells where insulin is made. Those with the mutation seem to make slightly more insulin and have slightly lower blood glucose levels for their entire lives.

Already Pfizer, which helped finance the study, and Amgen, which owns a company whose data played a key role in the research, are starting programs aimed at developing drugs that act like the mutation, the companies said.

But Timothy Rolph, a Pfizer vice president, cautioned it can take 10 to 20 years to get a drug to market after discovering something new about human genetics and disease.

Read more: http://www.nytimes.com/2014/03/03/health/rare-gene-protects-against-type-2-diabetes-even-in-obese-people.html

[RC]

1. Type II diabetes is more about insulin resistance, than not enough insulin.

[markpkessinger]

2. Exactly correct

Says this Type II diabetic.

[Timez Squarez]

3. Borderline Type II diabetic..

I'd be happy to get whatever fixes the problem...

And yes, I have to lose some weight, I'm at 260....

[markpkessinger]

6. In my case, it was never a matter of weight . . .

I'm 52 years old, 5'10" and have never weighed more than 165 pounds. When I was first diagnosed, at the age of 49, my blood/glucose was 692. I went directly on insulin, and have been ever since. The big factor in my case was simply genetics: my dad was a Type II, as were three of his four siblings; several aunts and uncles on my mother's side were also, as are two of my elder sisters, and my eldest sister is, like you, borderline. Genetics sucks sometimes!

[Skittles]

8. both my parents were type II and neither one was overweight

[shanti]

12. 692, wow!

isn't that about the level of diabetic coma? were you feeling poorly then? i'm a T2 diabetic, no family history except for my sister, who was dx'd before me. my issue is inactivity, especially now that i'm retired. i just don't love exercising, preferring to do handwork and the like.

i did lose some weight after diagnosis, but seem to have plateaued. my numbers have never been really high though. i was diagnosed with the condition at 149 fasting. have it pretty much under control now, my eating habits changed considerably.

maybe this new development will help our children, if not ourselves...

[yourout]

7. Also a member of the type II club. I would have to lose a lot of weight to get to 260.

This winter has been brutal for staying active.

Around here you "Live in the Summer and survive in the winter".

[IDemo]

4. Type 1 here for 50 years this month

I'm not entirely up on the mechanics of Type ll. If I'm understanding this correctly, part of the effectiveness is in allowing the pancreas to create enough insulin to deal with the resistance factor. Some Type ll's can become reliant on insulin injections if the oral meds aren't completely effective.

[magical thyme]

9. the only technical description I could find

said something along the lines that the gene in question encodes for a zinc transporter protein in the islet of langerhans. Zinc granules are found in insulin and zinc is involved in hepatic clearance of insulin. Apparently about half the insulin produced is normally cleared almost immediately by the liver, with the other half remaining in circulation.

The mutation renders the gene nonfunctional, so I'm thinking without the protein in question, the zinc isn't transported into the insulin, so it's not cleared by the liver, so more remains in circulation.

But I'm not sure they really understand in detail how it works. Only that studies have shown that people with a single copy of the mutation have a 65% reduced incidence of type 2 dm.

[aquart]

10. Then it's well worth studying to find out exactly how it works.

From what I've read here, Type II seems to be more Type IIa, Type IIb, Type IIc...and that may matter hugely.

[magical thyme]

11. they are studying it

When I googled, the articles from 12/13 were about mice findings that led them to believe that the disrupting the gene would increase diabetes, not decrease it. When you get to the molecular level, the pathways and interactions are exquisitely complex. When they finally track it all down, it will be some very cool sequence of interactions.

This is all very, very new learnings. We're really just an infinitely complex game of mousetrap at that level.

[jtuck004]

5. K&R. "...10 to 20 years to get a drug to market..." < Won't hold my breath <G> n/t