Type 1 diabetes gene found

Source: The Guardian Unlimited




The researchers looked for differences between the genetic sequences of 563 children with type 1 diabetes and those of more than 1,000 healthy people. They noticed that the diabetic children had a particular version of a gene called KIAA0350, which sits on chromosome 16. The gene is known to be active among immune system cells in the body, though scientists do not know its exact function.

"The role of KIAA0350 needs to be investigated," said Hakon Hakonarson of the Children's Hospital of Philadelphia. "However, a special cell type called a natural killer (NK) cell expresses this gene abundantly, although at different levels based on these gene variants."

Prof Hakonarson said a particular mutation in KIAA0350 may activate the NK cells in such a way that they attack and destroy the body's own cells, particularly the insulin-producing ones in the pancreas, resulting in type 1 diabetes. "A particular version of the gene protects against this inappropriate autoimmune response, while a different version of the gene makes it more likely to happen."



Read more: http://www.guardian.co.uk/science/story/0,,2127573,00.html

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In the mean time we could be looking at the closed loop system being available in a year. clinical trials are on going.

O8)

We on the other hand found out after our son's Dx 5 years ago that we have 39 family members on hubby's side with it.

Thanks for that 5th vote. I was hoping this would stay up for a day or two so many DU'ers get a chance to catch this news.


Its nice to post an news article and find so many appreciate the news with their votes. Thank you DU'ers for showing your appreciation for this topic.

Elsewhere, it's a great chance to get one up on a nasty disease. Here, it's just a way for private insurers to designate a new class of untouchables.

The youngest, just diagnosed the Thursday before Father's day.

I am holding my breath hoping the younger boy gets lucky.

still, it was our worst nightmare realized when we saw the symptoms and decided to check his blood sugar, seeing the meter read "HI".

:hug:

My 1st wife died in '84 from complications of diabetes...

I hope this helps....

I don't what I'd do if/when Diabetes takes my wife. We're hardly the most athletic people, but all her extremities are fine so far. she takes good care of her feet etc. Also the understanding of diabetes and treatment has come a very long way from '84. She also has PCOS (self diagnosed as our huis arts is (imho lazy and) over worked and we rarely get better than here's some meds diagnoses) which she is now getting treated. Her blood sugar is more regular, and she has more energy and we walk much more because of it. :)

-A patriot in exile.

diseases. I sure hope they find a cure for JD, my best friend from High School, her daughter was dx'd at age 6, is now 17, has an insulin pump. It's been a rough road for her family, and especially dear Ms. N. :grouphug: My heart goes out to anyone who has this insidious disease.

It developed when she was 12.
Any kind of cure or better treatment would be a blessing for us.
We live in the Netherlands so insulin, and a state of the art insulin pump isn't even close to an issue. But it also means that we can't move back to California (I'm a bay area boy) because of the mess that health care is.

Even more important, any children we have would almost definitely have Diabetes I at some point. a treatment for them (if it's too late for her) would mean they would not have to suffer with always pricking themselves for blood sugar counts, and insulin every couple days (her pump uses a 2 day needle which is handy, before she had to inject for every intake, and before bed, so two kinds of insulin).

Sicko had the (best) worst case scenarios, as all those people are alive. Diabetics can buy insulin over the counter, but must get a prescription for the needles. All reasonably affordable, but my wife looked at that and said we (the US) are living in the dark ages of diabetic medicine. Her pump costs 10,000€ and only lasts for two years (that's two years of abuse). she has gone through 2 so far as they only really last about 18-20 months.

A cure, or at least a treatment for future generations would be a blessing for my family, and many others. Recommended.

-A patriot in Exile

if she had it, there was a chance that her Type 1 could be reversed through an experimental treatment, according to her Endocrinologist. It turned out that she didn't have that particular marker. (And we don't have a history of Type 1 in either family.)

I don't know if this is the same study, although she was tested through St. Paul Children's Hospital.

She was diagnosed ten years ago at the age of four. We are all very tired of dealing with the disease and I can hardly stand to get my hopes up, then dashed, once again. :(

Hugs to the other posters also dealing with Diabetes. :hug:

This is great news. Although my niece is doing very well coping with the Diabetes (she's a very active girl) I always worry about what her life could be as an adult dealing with all the complications.

Let's hope this is the breakthru needed to help reverse this cruel disease

and toddlers. I can't even imagine trying to manage that, when they can't tell you that they are having an insulin reaction, not to mention the finger pricks and shots. (I remember sadly looking at how tiny my just-turned-four year old daughter's fingers were and trying to find enough fat to pinch up for the injections.)

I'm sorry to hear about your niece. The fact that she is active is good for her long-term health. Hopefully, she will be able to manage her diabetes well and stay healthy.

:hi:

Give my love to your daughter; I believe she may have a real hope in her lifetime (like I spent a lifetime hoping for).

I'm still hoping for a nislet cell transplant--maybe someday...

:hug:

I hope there will be a cure for you, too, and you can have your hopes fulfilled.

:hug:

Wow, you put into words what I was thinking last night when I Rec'ed this thread but couldn't post.

I would do anything to rid my 12 year old daughter of this...she's the smartest, strongest person I know.

and calculating the carbs and insulin certainly helps with math skills. ;)

When was your daughter diagnosed? Have you seen any signs of teen-aged angst around her diabetes?

Well-intentioned people have been passing along the latest news about possible cures for years, but I've reached the point that I won't get excited until I hear about it from my daughter's endocrinologist.

Hugs to you and your child. :hug:

She does pretty well unless her sugar count goes a little high, and then it's like instant teenager. :P

I almost think that the docs and nurses *initially* tell you about "possible cures right around the corner!" to keep your hopes up in those first confusing (and scary) days, but like all things in life, I'd rather just have the truth.

Best to you and your daughter. :hug:

:kick:

This is a fantastic finding! However, for those not steeped in diabetes facts, this only applies to type 1 diabetes, which are 'only' 5%-10% of people with diabetes. Type 2 is much more common. Generally speaking, diabetes that begins during childhood is type 1, diabetes that begins during adulthood is type 2.

People with type 2 diabetes have also had good news over the last few years - a new class of drugs that is very helpful (incretin mimetics such as Byetta) and we're getting closer to the "artificial pancreas" using insulin pumps and continuous glucose monitoring.

just 2 more cents, only 2-5% is genetic/hereditary. my child was dx 2yrs ago, and everyone kept asking if i or my husband had it..when i'd say no...they'd ask...well who has it. i also get frustrated when ppl think it was brought on due to diet. i also hate it when they whine and say...ohh that's so sad, right in front of my child. sorry i ranted a little,

encounter docs and nurses who know shockingly little about it.

I wear an insulin pump, and I once had to physically stop a nurse in the hospital from giving me an insulin injection.

Unbeliievable.

top of the hard work of raising kids. So if you got a chance to lighten the load here, its a good thing.

Then I would just add to this that judging by your screen name you are juggling this and life as a military spouse? I lived that life as well, 1980 to 1990 USMC/helo pilot hubby) so you deserve to rant even more. We are all dealing with many difficulties around diabetes, some have more than their fair share though.

Please make a correction on your earlier sweeping statement on who gets this darned disease. I am concerned you may be giving some false background when you said "Generally speaking, diabetes that begins during childhood is type 1, diabetes that begins during adulthood is type 2."

Not true. Sorry, but "generally speaking" is one of those MSM news phrases used like "some say."

Not all kids have type 1; many are diagnosed with Type 2 these days. And I developed type 1 at age 36. Docs have no idea why my body turned on itself and started destroying the cells. Only diabetics in my family were all type 2 and overweight; I'm not overweight, so I am completely baffled as to why this happened to me. In short, the old falsehood that Type 1 is "childhood" is just that.

The few of us adults who are Type 1 tend to get ignored, as Type 2 gets all the press. Only group doing a darned thing in the US to find a cure is the Juvenile Diabetes Research Foundation. But all their study groups are focused on kids with type 1, leaving the rest of us out here waiting. I want a cure for ALL of us, regardless of Type or age.

And there IS a current option for a continous glucose monitoring (CGM) out now for sale. However, while my insurance will pay for my new pump, they won't pay for the $1,000 CGM attachment or the $300/month in insertion kits that make it possible (yep, it's Anthem, folks!) Their statement: It's "not on their formulary list" - meaning that the manufacturer must not be kicking back enough money under the table to get it on the list.

One bout of diabetic Ketoacidosis costs them $9,000 in medical & emergency room fees. Pay a little now or a lot later, Anthem...

I know that's a little fuzzy, but a quick check found this abstract showing that the median age of onset (at least in Sweden) of type 1 was 10-12 years old in 1995-1998:

http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=12107721&dopt=Abstract

I don't expect that it'd be much different in the US.

I do think that while my statement was a bit fuzzy, it was different than "some say", which often means whatever is to follow is uncorrelated with reality.

Sorry to hear of your troubles with coverage - only a few years ago pumps weren't covered either, so some progress is being made.

Mostly, I hope that diabetes of all types gets cured! I do think that good progress is being made on both types 1 and 2.

I hate sticking myself twice a day for the Type 2 I came down with. I wish these ignorant Bible Beating idiots would get out of the way and unshackle the doctors on stem cell issues.

Oh how I wish Bush and his ignorant Christian Republican pals would all get diabetes. Let them stick themselves twice a day, especially those TV Preachers. Make Pat Robertson stick himself live on the 700 Club! Oh you would see stem Cells turn into the Manhattan Project.

I hate sticking myself twice a day for the Type 2 I came down with.

I know what you mean. And Bush only adds insult to injury! Between his pseudo-fundie stance against stem cell research and his insistence that we pay cartel-prices for our medicines, I feel he has one hand digging my grave while the other one picks my pocket!

...teliing you to test often, of course he doesn't talk about how much the strips cost. Hell, I'm sorely tempted to ask Mike to take on his next Cuba trip!

Excuse me a moment while I put on my "pendantic hat." :hi:

There are two major types of diabetes, formerly known as "juvenile diabetes" and "adult onset diabetes" and know called simply Type 1 and Type 2. The change in name was made about 15 years ago to reflect the cause of the diabetes rather than the age at which it developed. While both types have different causes, they have the same effect: chronically high blood sugar, which causes all sorts of problems.

When a person eats carbohydrates -- fructose, table sugar, starch, whatever -- the liver will convert some of those carbs into glucose and release it into the bloodstream. The rest is bound with fat to create glycogen, which is stored in the liver. Glycogen is converted into glucose and released as the body needs more energy.

In a healthy individual, a raise in the level of glucose in the blood prompts the pancreas to release insulin into the blood, produced by pancreatic cells called the Islets of Langerhans. Insulin is a long, curled chain of protein. When one end of the insulin molecule "bumps into" a glucose molecule, that end of insulin will "snap" like a trap closing, grabbing hold of the glucose. That reconfigures the other end of the insulin into a trap that fits a type of receptor put out by cells needing glucose. The insulin will eventually bump into one of these receptors and snag; the cell then "reels in" the receptor, harvests the glucose and disassembles the insulin for material to build other proteins.

Glucose is an extremely energetic molecule, which is why every active lifeform on this planet has evolved to use it as an energy source. In high concentrations, it acts like an acid and can cause serious damage to the cells. It will etch away at the inside of the blood vessels, creating places where blood clots can form and where cholesterol can accumilate. In many cases the damage can be repaired, but nerve cells and cells in the retina can not be repaired and so result in nerve damage and blindness. High blood sugar interferes with blood clotting and cell repair, which means wounds are more slow to heal. Adding insult to injury, high blood sugar also causes problems with parts of the immune system and provides a luscious buffet to many different bacteria, making illness a very serious problem. The body tries to remove excess glucose in the urine, but the glucose can also cause damage to kidney cells. Also, chronic high blood sugar can overwork the kidneys; combined with cellular damage, it can lead to the kidneys "burning out." All of this is why diabetes is the leading cause in the United States for blindness, kidney failure, strokes and non-accident related amputations (caused by gangrene infections), and why diabetics are high on the list to get immunizations.

Type 1 diabetes is caused when the body does not produce enough insulin to handle the amount of glucose, and represents about 5% to 7% of all cases of diabetes in the United States. The majority of T1 is caused by an auto-immune disease, where the body's immune system attacks and destroys the Islets of Langerhans (IoL.) In this situation, depending on the severity, the IoL are destroyed anywhere from before birth to early adulthood, leading to diabetes. This form of T1 is what the research mentioned in the OP addresses: by finding the gene that causes this auto-immune response, it becomes possible to fix the condition and either prevent further damage or allow for the transplantation of healthy IoL or even a whole pancreas. Most other cases of T1 are caused by failure of the pancreas due to aging or disease. Because people with T1 do not produce enough insulin, they must take it manually through injection or the use of an insulin pump.

Type 2 diabetes is caused when the body does not use the insulin it has, and represents 90% to 95% of all cases of diabetes in the United States. There are several reasons why T2 might develop. The most common one is that the cells are "full" and do not put out the insulin receptors, allowing insulin (and glucose) to remain in the bloodstream until the kidneys get annoyed and remove it. This situation seems to be closely related to metabolic rate and/or obesity (research is still unclear on which is the primary cause.) The research mentioned in the OP will not help with T2, but may open other avenues of research that will lead to effective treatments for other kinds of diabetes.

Hi - can you refer me to a source that outlines the binding of insulin to glucose? I had always learned insulin binds to the insulin receptor, resulting in transcription, translation and localization of the glucose transporter to the cell surface, thus resulting in glucose transport, but it's been a couple years since I had biochem.

Thanks.

I have little doubt it was a simplified version, and since biological sciences are definitely not my forte.... :shrug:

The image I was given, and my understanding of how most carrier molecules work, is one of a double-ended man-catcher. Catching a glucose at one end sets the trap at the other end to catch a receptor. I have no idea if that is correct, but it sounds right.

My spouse has been diagnosed with Type II and I am on quite a learning curve, educating myself about diabetes and all it involves. He is doing the diet and exercise routine, but his numbers and weight are not going down. We consult with a nutritionist and spouse's dr. recently prescribed Metformin, but so far to no effect as far as lowering the blood glucose levels. I remain confused, need all the help I can get, so thanks again for putting on your "pedantic hat" and giving me yet more information. I just printed it off for my file.

Classof56

Please be aware that many of us, after diagnosis, go through the same stages/steps of grief as if we had lost a friend or loved one.

The disbelief/denial stage nearly killed me, as I tried to ignore it and act normal, pretending it would go away. The resulting bout of DKA nearly killed me.
Took me a really long time to get through the "anger" stage, as I was mad at everyone - God, my doc, my family, people on the street, etc. I turned that anger into action and am now planning to go to law school; hopefully to fight for people who have been discriminated against (ADA cases, etc.)
I've finally reached the resolution stage, I guess.

My best advice to you: prepare for those stages and be supportive. Also, learn all you can about the symptoms of DKA. When you've got it, you can't think straight and probably won't recognize the symptoms in yourself. You think it's the stomach flu and just want to sleep. Thankfully, my husband recognized it and took me to the doc in time. Might want to find a support or therapist to give your spouse someone to "vent to." For a period of time, it was all I could talk or think about - I'm sure my husband got tired of hearing about it.

Good luck to you and your spouse as you work through this.

One was diagnosed at age 9, the other at 12. Life-long histories of catastrophic problems. We finally lost one 6 years ago, the other one, this past Thanksgiving. It is a horrible, horrible disease, and as I've said here before, every time Bush vetoes stem cell research, I wish someone close to him would be stricken with it.

Incidentally, in the facts column, we were always told that Type 1 skips every other generation. Both of our grandmothers were Type II. Only one of my sisters had kids, and she was told they would most likely not get it, but their kids chances were not good. It's one of the reasons my husband and I decided early on not to have children.

Whatever happened to the research into Type 1 being caused by a virus? I've never heard anything more about it.

That must have been a huge challenge for your entire family, especially before glucose meters and insulin pumps. :(

As far as the rest of your post: I would say that there isn't any evidence of Type 1 skipping generations. For example, my daughter has T1, but we aren't aware of any other family member having that type. Also, I know a T1 man, who has a son recently diagnosed with T1.

I haven't heard much lately about viruses or environment as a cause, either. However, one theory is that there can be a genetic predisposition that is triggered by something in the environment. I believe that applies to my daughter since she was diagnosed six months after having chicken pox. Perhaps she would have developed it eventually anyway, but four years old was pretty young.

Type 2 confined my previously strong, athletic 6'5" father to a wheelchair-bound nursing home for years before it eventually deteriorated his esophagus to the point where liquids including saliva would leak to his lungs. They said he needed to live the rest of his life with a feeding tube. He declined. My dad passed away a week later. :cry:

Cure this damn disease and cancer and aids and ... ALREADY.

I have a Type 1 daughter diagnosed at age 10. She's in college now and I'm so afraid for her. When I can no longer cover her on my health insurance, her chances are slim of ever finding health coverage - even if she's able to afford it!
No wonder Diabetes and it's complications cost this country so much... It's a very expensive disease. Just the test strips my daughter uses to check her blood sugar (5 to 7 times a day) cost about 70 dollars for 100 strips! People who have to pay for these things out of their own pockets probably test very rarely, which leads to out of control blood glucose..and horrible complications!
Hopefully we'll have single payer universal health care soon!

things such as health conditions during interviews. Employer based insurance cannot refuse preexisting conditions, at least not in California.

i don't want ppl reading this to automatically think this will be a death sentence or a sentence where you're in and out of the hospital constantly. In fact there was an article of two brothers who are in their 90'S who got the disease in like 1920. One was 12, when he was dx, the other was 16. 1920's ppl!! When ppl were dying within weeks of a dx. Anyway I'll try to find the article. Neither have had any major complications. One brother got two toes amputated in his 80's but taht was about it. The key for them they say was eating right, excercising, staying informed and taking care of their diabetes. Sometimes i get depressed for my son, but i have to remind myself that he CAN live a pretty healthy life if he makes the right health choices, of cours right now I'm doing it for him. Now the real depressing thought is, how is he going t pay for all this when he leaves home:(

My dad got Type 1 at 35 . I got it at 16.

Some people have a more difficult time controlling it, unfortunately some others don't bother at all.

Maybe they can now find a cure or a longer-term treatment (other than daily injections)

during their time here on earth. Like isn't there some kind of religious scripture that so states that is what should be happening :shrug:

Let's hope it helps increase awareness and understanding of type 1 as well as spark even further research for a cure.