A study just published in the Journal of Clinical Investigation describes what sounds like a very important advance in the treatment of genetically-caused diabetes.
The study is iPSC-derived β cells model diabetes due to glucokinase deficiency. Haiqing Hua
et. al Journal of Clinical Investigation, 2013; DOI: 10.1172/JCI67638
To better understand what was done here, read Science Daily: Researchers Demonstrate Use of Stem Cells to Analyze Causes, Treatment of Diabetes
The particular form of diabetes that was studied here was MODY-2. This is a monogentic genetic form of diabetes, which means you need have only one copy of the gene to experience its symptoms. MODY-2 involves the glucokinase gene (GCK) which is often described as a "glucose thermostat." It affects the control of fasting blood sugar, and when it is broken people have diabetic-level fasting blood sugars that, in theory, can not be lowered.
This it turns out, is not entirely true. I have heard from several people diagnosed via gene tests with MODY-2 who report that cutting carbs does lower their fasting blood sugar, even though they were told it would not. My guess is that while their base fasting blood sugar is higher than normal eating a high carb diet further stresses their blood sugars as it does in people without the defect, so removing the carb-related stress lowers their fasting blood sugar to a level slightly higher than normal, but not nearly as bad as what they experience while eating a high carb diet.
But because their fasting blood sugar is higher than normal from birth, which in most people leads to post-meal blood sugars that are also higher than normal, People with this gene often die of heart attacks at very young ages, which is why, though it doesn't cause the extremely high post meal blood sugars that produce the classic diabetic complications, MODY-2 is still a very serious condition which requires life-long vigilance on the part of those who suffer from it.
What the researchers did in this study was to take skin cells from people with MODY-2 and using the kind of wizardry that stem cell scientists now routinely pull off, use them to create pluripotent stem cells--cells that can become any kind of tissue.
The researchers then, using even more stem cell magic, turned these pluripotent stem cells into beta cells, implanted them into mice, and three months later confirmed that these cells were in fact beta cells that showed the characteristics of MODY-2.
That's already pretty amazing, but the researchers were just getting going. Next the scientists "repaired the GCK mutation using molecular techniques." After doing this, "cells with two restored copies of GCK responded normally to the glucose stress test. Unlike other reported techniques, the researchers' approach efficiently repaired the GCK mutation without introducing any potentially harmful additional DNA."
In short, what they did was create perfectly normal beta cells that would have been immunologically identical to those of the skin cell donors that had repaired the flaw that gave these people MODY-2 diabetes. If this is really the case, it should eventually be possible to grow a significant number of these new, repaired beta cells and transplant them back into the people with MODY-2 where they would be able to respond like normal beta cells, secreting insulin when exposed to rising glucose levels. Best of all, these transplants shouldnt require the use of any immunosuppressant drugs.
The part about growing enough cells and transplanting them is still in the future. So even if you have MODY-2 it's going to be a while until there is an actual cure your doctor can prescribe for you. But even so, this is, obviously, extremely good news for anyone who has a genetic form of diabetes which involves damaged beta cells.
And though few people with Type 2 realize it, this would include a lot of people with Type 2, as there are a couple of damaged genes affecting insulin secretion that are very commonly found among Europeans with Type 2 diabetes, for example TCF7L2, which is discussed HERE.
There are other commonly damaged beta cell genes that are found in other ethnic populations too. So in the long run this research could lead to effective beta cell transplants for people with Type 2 that could normalize their blood sugars.
Will it really happen? Hard to say. Sadly, all the money in diabetes treatment lies in creating drugs that have to be taken every day for decades and devices that require very expensive consumable parts that have to be replaced frequently. Since the companies that make those drugs are the companies that fund most research--and the ADA and the JDRF and drive the diabetes research agenda, it may be difficult for the scientists who performed this particular miracle to get the kind of funding it would take to turn beta cell implantation for MODY or Type 2 diabetes into a viable treatment covered by insurance.
Still, if you have a genetic form of diabetes, it's good to know that your children might not have to go through what you did, thanks to the advances made in stem cell research today.
NOTE: Don't confuse this research which is in its early stages with the fake claims of the many scammy "stem cell clinics" you will find on the web that claim to cure diabetes (and anything else that ails you) with transfusions of your own stem cells. These slimy weasels prey on people who don't understand science and cure them only of having healthy bank accounts. Ignore them.
The exciting stem cell research that may pay off for people with diabetes is still, like the study discussed here, in the preliminary lab-bench stage which is very far from being something you could have done to your body to heal it. But someday, if we're lucky . . .
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7 comments:
according to 23andme genetic testing, I have the TCF7L2 gene. that gene has also been linked to breast cancer in one study i glanced at. my mother had diabetes and died from metastatic breast cancer.
my oldest daughter seems to have a worse response to glucose than i do. if she eats a bagel or a bowl of strawberries, she has to take a nap. although we eat low carb in my house, and she did for a while, she is back to eating junk food whenever she can with her friends.
i am waiting for the test results from 23andme for her and my other daughter. if they have the gene, which i hope to god they don't, maybe that will motivate my eldest daughter to not eat junk.
v/vmary,
23andme is not a reliable gene test. I have heard that it can give very questionable results. I wouldn't use it for any kind of diagnosis. There is no way of knowing if it is accurate and its results do not match those of other gene testers.
The only reason that the diabetes gene might be related to cancer is because very high blood sugars promote cancer. But that is not one of the major known breast cancer genes.
i will look into the methods that were used in identifying the TCF7L2 gene in the research you cited for that gene. If the method used to identify the gene in that research is the same method that 23andme uses, then i would think that would give more validity to the 23andme results. that being said, i have been on diabetes forums on the 23andme site in which people who have diagnosed type 1 diabetes were given reports saying they had a low risk of having that condition. more relevant is the fact that i have gotten high blood sugar readings after doing the bagel test, although i may have been too low carb and that skewed the results. importantly, i have family history, and i gain weight easily and on my abdomen. so whatever the accuracy of the 23andme test, i feel low carb is the way to go.
i couldn't find out exactly what method was used to identify people with the TCF7L2 gene in the research you cited. I did find that 23andme uses the Illumina OmniExpress plus Genotyping Beadchip and that a lot of research is done using maybe not that exact chip, but Illumina products:
http://www.sph.umich.edu/csg/kang/MetaboChip/
Hopefully chips coming from the same company have similar degrees of accuracy.
Also, is there any research re average age at which people with the TCF7L2 gene need insulin (if they do indeed get to a stage where they require it)? Thanks.
There can be many different defects in the TCF7L2 gene or any other gene associated with diabetes, which give varying degrees of dysfunction. Plus, there are many other environmental factors that go into making a person develop diabetes, starting from the environment of the womb, and then the whole life of chemical and other exposures. So each person's diabetes is unique, even if they share a common defective gene.
You can help things along by not stressing your beta cells with high carb meals, eating organic foods without pesticides and herbicides that are known to worsen insulin resistance, and avoiding restaurant foods with their heavy load of chemicals, especially fast food and chain restaurants.
Eating reasonably sized portions helps greatly too, as getting fat can ramp up inflammation and puts more strain on the beta cells.
But there is no way to predict most diseases from a gene profile, which is why doctors don't use this kind of chip for diagnosis. If you have all the symptoms of a genetic condition a test can confrim, but I too have heard from quite a few people who were told they were at low risk for things they already had and at high risk for conditions they didn't have when they did that 23andme test.
I have no idea what their quality control is like. They aren't a lab of the kind that does medical tests which have to live up to certain standards. And where their analyses come from--the ones that link genes to conditions is unknown. I also wonder if they test for all the different alleles that are associated with conditions. Even with the monogenic forms of diabetes there are a whole slew of different actual errors found in various families and the difference add up to different presentations of the diabetes.
Diabetes is NOT a disease of blood sugar, but rather a disorder of insulin and leptin signaling. Diabetes type 2 is completely preventable and virtually 100 percent reversible, simply by implementing simple, inexpensive lifestyle changes, one of the most important of which is eliminating sugar (especially fructose) and grains from your diet
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And you have done how many years of research in primary sources to determine your theory? I'm up to 15 years and the more I study the more wrong I find simplistic statements like yours to be.
I have heard from thousands of people with diabetes, many of whom have eaten low carb diets. Very few have "reversed" their diabetes. Many can control their blood sugars, but quite a few, including myself 7 years ago, could not. That's because they don't make insulin or because their beta cells don't respond correctly to rising blood sugar levels.
I have also heard from a few people who were treated by doctors who had enriched themselves by promoting fad theories about how cutting carbs is all people need to do with diabetes who told them what you just posted and when their blood sugar rose dangerously accused them of not following their low carb diets. In one case it turned into an emergency as the person had LADA and required insulin to avoid diabetic ketoacidosis.
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