More on folate genes, plus exomes, genomes, cancer, and Jay Lake

Veins & Cell Structure

Earlier this month it was National Folic Acid Awareness Week, which is now for me a whole lot more important than it used to be! (That is, of course, because of all the MTHFR stuff I’ve been talking about here.) I wrote a big long blogpost about folic acid and folate over at my main blog, talking about how this is a lot more complicated than I used to think.

Folic Acid, More Complicated Than You Might Think:
http://etechlib.wordpress.com/2013/01/19/folic-acid-more-complicated-than-you-might-think/

You can read it there. Sometimes I feel like the whole conversation about folate is being compromised by the conflation of folic acid with the many varieties of folate, and people misunderstanding that there are differences, and they are significant. The conversation is kind of like the old song, “You say tomato, I say tomahto”, except that the words are different and the concept is being treated as if they are the same thing when they aren’t. Anyone want to write a bad parody?

“You say folic, I say folate.
You say MTHFR, I say MTHFRD1”

The blogpost does go into a bunch of the research and evidence behind folic acid versus folate, and some of the gaps in the research. One of the points is that research keeps moving forward, meaning that what we know and what are best practices are a moving target as well. We do the best we can at any given point in time, but must be flexible and keep trying to learn more and improve not only our own life but the lives of others who might share concerns with us.

I now read a lot of the emerging research on MTHFR, and keep track of it. While doing so, today, I stumbled across two recent articles mentioning problems with folate metabolism (and cobalamine/B12) associated with some other genes.

Update and new concepts in vitamin responsive disorders of folate transport and metabolism. http://www.ncbi.nlm.nih.gov/pubmed/22108709

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. http://www.ncbi.nlm.nih.gov/pubmed/21813566

Severe Combined Immunodeficiency Resulting From Mutations in MTHFD1. http://www.ncbi.nlm.nih.gov/pubmed/23296427

Both of these mention MTHFD1 as contributing to folate metabolism problems, and that these problems with folate processing are leading to immunodeficiency (meaning that your body can’t fight off disease well or heal injuries). At this point the literature on MTHFD1 sounds a lot like the early literature on MTHFR — it only talks about the most severe problems that can be caused by mutations in the gene. I am wondering if this will turn out to be “the next MTHFR,” a gene for which mutations can have both severe and relatively mild ramifications for patients.

Jay Lake

I am also excited to see that some of these discoveries of new genes with clinical implications are coming from exome scans, and that exome scans and whole genome sequencing are both becoming more common. One of my Twitter friends, Jay Lake, is also a well-known and highly skilled science fiction and fantasy author. Jay is trying to raise funds to have whole genome sequencing to try to find a way to combat the terrible cancer he’s been fighting the past few years. As a person who is self-employed, he doesn’t have the kind of insurance I have, and even my insurance didn’t pony up for even the two small personalized genomic scans I had last year that resulted in turning my life around. Jay had his fifth major surgery since 2008 this week. According to the Kickstarter campaign, “Sci-Fi author Jay Lake has an 8% chance of surviving long enough to see his daughter graduate high school. What does a parent do?” The type of cancer Jay has also runs in my family — colorectal cancer. A lot of people get that, and it tends to go badly quickly. There are many reasons why I would love to see Jay get his genome scanned, and I’m betting it would help more people than just Jay and his family. What do we not learn because of only providing selective healthcare to the have’s? I wonder, I really do.

If you are interested in helping Jay, you can buy one of his books, or donate to one of the campaigns listed below. The incentive prizes alone are pretty astounding. And Jay’s not just laying back and waiting, but has come up with some really creative approaches. That’s why there are a couple different campaigns, with slightly different purposes.

Sequence a Science Fiction Writer: http://www.youcaring.com/medical-fundraiser/sequence-a-science-fiction-writer/38705

Lakeside (A film about cancer in families): http://www.kickstarter.com/projects/1060155945/lakeside-0

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