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American Omic

funkyamericangothic

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… except for the genes that allow us to totally reset our expectations about social rejection.

Thank you Jia Jiang for helping me to take everything I had learned about the psychology, neurobiology and genetics of social rejection and rejection sensitivity … and throw it in the garbage.

Apparently the best part of having a human brain is that we have the biological predisposition to transcend our own biological predispositions.

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legarement

The “T” allele of rs1378810 in your DNAJC13 gene has been associated with a slight benefit (less than 0.4% variance) in general cognitive ability. You can check your 23andMe profile.*  What? You’re a TT? Ooooh … nobody is impressed. But let’s not make light of our DNAJ genes just yet.

Consider the critical role of DNAJC5, a so-called cysteine-string protein (because it encodes a protein with an array of cysteine residues). This protein helps synaptic vesicles fuse and un-fuse so that your neurons can release and re-cycle tiny packets of neurotransmitters – which is how neurons send signals to one another. Yeah, vesicle fusion is really important … and is happening like a quadriillion times right now in your brain.

Mutations in the cysteine string of DNAJC5 have been associated with Huntington’s disease.

[artwork credit]

*Interpreting 23andMe data here can be confusing because 23andMe lists an A or T as possible alleles but one isn’t always sure which strand the research literature refers to and if that strand is the same strand that 23andMe is reading from. Luckily SNPedia points out that an rs1378810 TT is in tight linkage disequilibrium with rs2133692 TT (T or C alleles) so you can check this genotype on 23andMe to infer your rs1378810 genotype. My 23andMe profile says AA at rs1378810 and TT at rs2133692, so I think I have the slightly beneficial TT genotype … but I’m really not sure. Confused? Me too. But like the research suggests, this genotype really doesn’t add much to one’s general cognitive ability.

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Meme genes: ALBA

albamuscle

Mo’ Jessica ALBA, mo’ muscle? Actually no. “Serum albumin demonstrated modest and inconsistent trends with loss of muscle mass and function. Low serum albumin within the normal range is not a risk factor for this process among elderly men.” More on your ALBA gene here.

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rg3genes

Have you read The Sports Gene? Maybe you are wondering if your child might be the next Lionel Messi? Or maybe you’re wondering why you were always picked last for kickball? Was it the genes? the practice? or a combination of the two?

We all know kids who seem to have been born with a baseball bat or tennis racquet in their hands. Tall kids, strong kids, fast kids and kids with great hand-eye-coordination. As far back as 1978, the German Tennis Federation had identified 9-year old Steffi Graf as a top recruit based upon her lung capacity, ability to sustain concentration, running speed and her competitive desire. Other kids discover late in life that they have a genetic gift. On a whim, Donald Thomas leaped for his first EVER high jump in 2006 and promptly won the World Championships in 2007.  Chrissie Wellington (world tri-athelete champion) also accidentally discovered her genetic gift late in life (outpacing sherpas on her bicycle while vacationing in Nepal).

As described by David Epstein, the 1996 Olympic games in Atlanta, saw 7 women out of the 3,387 competitors carrying the Y-chromosome-linked SRY gene. 21-hydroxylase deficiency also causes the overproduction of testosterone and is over-represented among top female athletes. The GIANT research consortium has discovered hundreds of “sports genes”, such the rs9930506 SNP in the FTO gene, that contribute to body shape and size. Even more numerous are the complex genetics of height where each genetic variant adds a mere 2-6 millimeters toward NBA stardom. Elite sprinters are more likely to carry 2 functional variants of the fast-muscle-twitch ACTN3 gene. Lastly, an extended network of genes associated with muscle development can – when artificially overexpressed – induce muscle growth: insulin-like growth factor-I (IGF-I), growth hormone (GH), erythropoietin, vascular endothelial growth factor (VEGF), fibroblast growth factor (FGF) and myostatin blockers, such as follistatin.

Sports genes. Few of us are born with them (I was luckily born with the non-obese TT genotype at rs9930506 in the FTO gene, but alas, this allele is associated with a lower response to exercise). Fewer still might be intent upon purchasing a genetic endowment via the taboo art of sports gene doping, especially if they carry the right UGT2B17, CYP17 and PDE7B genotypes. Most of us, however, would just like to maximize our paltry genetic endowments the old fashioned way.

Practice.

Justin Durant of the Sports Science Institute of South Africa is quoted, “I’ve never seen a boy who was slow become fast” but how about late-blooming middle distance runner Jim Ryun whose practice regimen carried him from 21rst on his Wichita East track squad (in 10th grade) to an Olympian and 1-mile world record holder just a single year later? Epstein explores how each of us has an inherent genetic endowment for “trainability” ie. the extent to which our bodies and abilities respond to training. And yes, here too, molecular genetics researchers have identified more “sports genes” in a so-called training responsive transcriptome consisting of genes, including RUNX1, SOX9 and PAX3 whose expression is associated with exercise-dependent muscle growth and CREB1 whose expression is associated with improvements in heart rate and blood pressure.

Sports crazed parents should take note. Your child is probably totally average. Probably like self-described “totally average guy” Dan McLaughlin, who has slogged some 5,500+ hours into his personal experimental journey of “deliberate practice” hoping to land a spot on the PGA tournament by the time he reaches his 10,000th hour of practice. Will he make it? Or will he discover the oft-misconstrued “10,000 hour rule” is more like 4,000 for some and 40,000 hours for others. We wish Dan the best of luck on his quest, but also wish parents to use their children’s precious 10,000 hours for reading, writing, mathing and playing sports for fun rather than trying to attain an NCAA scholarship through mastery of a niche sport.

Will genetic counselors soon be found in pro sport locker rooms or at your local fantasy league draft party? Doubtful, but in 2005, according to Epstein, the Manly Sea Eagles of Australia’s National Rugby League became the first pro sports team to admit that it was genotyping players at ACTN3 and training them differently based on their genotypes.

I loved reading The Sports Gene! Have you ever noticed that NOBODY wants to read a blog or talk about genetics and medical illness, while EVERYBODY loves to talk about sports? Find me a graduate student who can understand (and stay awake while reading) medical GxE research and I will find 1,000 parents who are obsessed with finding the perfect sporting niche and coach for their child.

Whether it be medical treatment or athletic training, a good doctor/coach will seek to optimally match the patient/player’s genetic endowment with treatment/training. The Sports Gene by David Epstein is thus a wonderfully fun and timely playground for readers to explore the complexities of personal genomes and GxE interactions!

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GTFO

rage1

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BeFunky_OldPhoto_12

Have you ever read the DSM and thought you had EVERYTHING? Me too.

And that, sort of,  has always been a big problem … that it is really hard to separate the normal experience of anguish and suffering as part of our everyday mental and emotional lives from what is labelled a “disorder”. At the same time, however, patients, doctors and payors need some type of common reference so as to keep the diagnosis and treatment of mental suffering in-line with the way other medical illnesses are handled. So, everyone (in psychiatry, at least) knows the DSM will always be highly flawed and yet also highly necessary … so, you know, just try and live with it … but don’t expect, for a moment, to search for and find discrete genetic variants that correspond to DSM categories of mental disorders. No … because the DSM categories do not correspond well to the underlying biology of the CNS … the DSM does not “cut nature at its joints” so to speak.

Russ Poldrack provides a glimpse into what the future of diagnosing mental illness might look like using slightly more objective, quantifiable and biologically relevant measures of the brain’s physiological processes.

Also, I stumbled onto an awesome read about the creation of DSM-5 entitled, The Book of Woe

The overall thrust of the manual [DSM-5], the BPS complained, was to identify the source of psychological suffering “as located within individuals” rather than in their “relational context,” and to overlook the “undeniable social causation of many such problems.”  The APA could hardly deny any of this. As Regier had told the consumer groups on the conference call, the manual’s new organizational structure was designed to reflect “what we’ve learned about the brain, behavior, and genetics during the past two decades.” It doesn’t get much more “within the individual” and outside the “relational context” than that. (p. 239)

“Dereification is just as dumb as reinfication,” he [Allen Frances] told me. “A construct is just a construct – not to be worshiped and not to be denigrated.” Psychiatry, he was saying, has to live in the tension between the desire for certainty about the nature of our suffering and the impossibility of understanding it (or ourselves) completely. A DSM that tries to end this tension by turning itself into a living document was bound to collapse into chaos; that was the cardinal error of the incompetent DSM-5 regime. (p. 279)

“What [Dr. Thomas] Insel [Director of NIMH] heard “over and over again” on his tour was that psychiatrists were tired of being trapped by the DSM. “We are so embedded in this structure,” he told me. He and his colleagues had spent so much time diagnosing mental disorders that “we actually believe they are real. But there’s no reality. These are just constructs. There’s no reality to schizophrenia and depression.” Indeed, Insel said, “we might have to stop using terms like depression and schizophrenia, because they are getting in our way, confusing things.” Thirty years after Spitzer burned down DSM-II and built the DSM-III in its ashes, psychiatry might once again have to “just sort of start over.”” (p.340)

Yikes! after reading The Book of Woe, DSM-5 sounds, um, totally wack … if not a tool flagrantly designed to further commodify human suffering for the benefit of a medico-industrial complex. NIMH Director Thomas Insel’s recent announcement that, “NIMH will be re-orienting its research away from DSM categories.” suggests a future where diagnosis will based on biological measures and treatments are directed toward specific circuits.

Treatment for specific circuit dynamics sounds very promising. However, I thought Dr. Allen Frances, as quoted in The Book of Woe made a great point (p.346) that, “The trick is to develop a healing relationship, to care for the person not just the disorder, to diagnose and treat cautiously, and to see the healthy part of the person not just the sick.”

* Maybe that is the hope of this blog also … to take out and explore the intricate biological & molecular parts … but also to try and place them back into their original evolutionary, living, breathing, copulating (or more often the case of just thinking about copulating) “whole” human being.

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