Let’s talk about MODY: Detailed genetic question here!

Midori2018

Member
Messages
7
Type of diabetes
Other
Treatment type
Diet only
Hello

I’m 36, diagnosed 2 years ago with prediabetes with a 5.7 A1C (Through diet and exercise I got it down to 5.1 recently) . I had had symptoms of diabetes on and off though since I was in my 20s. After very large meals I would get unusually tired (not normal tired), feel almost comatose, and notice i was peeing more if the meal had a big dessert. I noted more peeing after large meals and desserts for years but didn’t believe it could be diabetes. when I was diagnosed though I was only 130 lb at 5 ‘7 and I haven’t ever weighed more than 140 pounds at my heaviest when I just had my daughter. many doctors kept telling me it was odd how thin I was with prediabetes. All tests did not indicate I was skinny fat as triglycerides, HDL, VLDL etc are all good. I have had antibody tests and they have all come back negative for an autoimmune component. The only one not tested was Zinc transport (may not be recalling the name correctly).


Recently, one of the very kind members on here informed me about MODY. I can’t thank that person enough, because right after they sent me that I happened to see in my genetic report from 23andme (a more hobby genetic testing site) that I carry a mutated HNF4A gene. And it briefly talked about how the mutations can indicate MODY ‘in general’ but whether my specific one does I’m not sure. I have looked over so many studies, and from what I can see, mine does ‘seem’ to be loosely connected to MODY 1. The SNP (the location on the chromosome) is rs 2425637. Does anyone (and I know this is a LONG shot) have a list of some of the different SNPs associated with the variants for the HNF4A gene? I can see so many articles about mutations to this gene being bad, but I’m just not sure if this particle variation of the gene is definitively on that list. Or that it has just been in a bunch of studies.

At any rate i’m hoping to get the more proper genetic test done soon, if my insurance will cover it. My doctor wrote me an order for it.

Thanks any advice welcome here :)
 

Bluetit1802

Legend
Messages
25,216
Type of diabetes
Treatment type
Diet only
I know that @Indy51 has an interest in mutated genes from her own DNA profiles on a hobby site. Maybe she can help?
 

catapillar

Well-Known Member
Messages
3,390
Type of diabetes
Type 1
Treatment type
Insulin
@Midori2018 doyou actually have a strong family history of diabetes? Assuming you have genetic diabetes without your parents/aunts/uncles/brothers/sisters also having diabetes seems rather a long shot.
 

Midori2018

Member
Messages
7
Type of diabetes
Other
Treatment type
Diet only
@Midori2018 doyou actually have a strong family history of diabetes? Assuming you have genetic diabetes without your parents/aunts/uncles/brothers/sisters also having diabetes seems rather a long shot.
So my grandmother had a light version of diabetes (was borderline) that needed no meds. So did her mother. My mother I’m not sure if she has it or not sadly.
 

Indy51

Expert
Messages
5,540
Type of diabetes
Type 2
Treatment type
Diet only
If you haven't already found it, there is a site called Promethease that allows you to upload your 23andme rawdata and generate a fairly comprehensive report from it. Very reasonable price too compared to some others. The report is also handy in that the information is cross-referenced to the SNPedia database, so more detailed information and studies available behind the individual SNPs in the report.
 

Midori2018

Member
Messages
7
Type of diabetes
Other
Treatment type
Diet only
If you haven't already found it, there is a site called Promethease that allows you to upload your 23andme rawdata and generate a fairly comprehensive report from it. Very reasonable price too compared to some others. The report is also handy in that the information is cross-referenced to the SNPedia database, so more detailed information and studies available behind the individual SNPs in the report.

Thanks so much! Yes, I use that site as well and highly recommend! That was where I originially searched for MODY genes. The problem is it is so understudied nothing really turns up for it in there save one SNP I had through Promethease. So I started digging even more the last few days. And like 30 scientific papers later I think I may have found something.

I contacted a researcher concerning my HNF4A SNP. He said it was is not significant enough and is common in the population. And this I think makes sense. MODY1 doesn’t match my family history. All three generations only have mild diabetes, really staying in the prediabetic range. All were in the 30s and 40s when diagnosed. no one progressed. This is very similar to MODY2

So yesterday I found this wonderful study:

http://diabetes.diabetesjournals.org/content/55/9/2534.figures-only

If you look at Table 3 it lists every SNP for the different types of MODY. So, I looked up all the GCK genes in my raw data from 23andme and low and behold, I many of them. So I think there is a HIGH chance I might have just solved the blood sugar issue that has plagued my family for generations. Now, I am not a scientist, so I don’t know if this article spotlights that all these SNPs definitely have a strong correlation or not, or whether they can be taken as diagnostic in any way. Anyone better at reading this study? Here is the actual link to the article, not just the tables.

http://diabetes.diabetesjournals.org/content/55/9/2534


But I think it may be a good indication. I’m not sure now whether to move forward with any genetic testing for MODY2 or whether this is enough. Any thoughts?

Thanks for reading
 
Last edited:
  • Like
Reactions: MattSWE

MattSWE

Newbie
Messages
1
Very interesting topic!

What is the current status regarding online DNA analytic services today to do your own research on MODY when you have your DNA (23andme, etc) available ?

Does Promethease distinguish that information if you upload to it?
Foundmyfitness?
Other services ?

I See that Midori2018 above here did some progress on his/her own. Would be nice to see if this type of DNA investigation on MODY has become more automated somewhere online?

Thanks for input in this matter!