
Mutation in key gene allows Tibetans to thrive at high altitude - lostlogin
http://www.theguardian.com/science/2010/jul/02/mutation-gene-tibetans-altitude
======
dschiptsov
The more simple patterns seem to be overlooked - that banal change in ones
breathing patterns - breathe not "deeper" but "more often" \- a habit body
could learn in two-three days. All the animals, dogs, yaks, etc are doing it.

The key issue is to relax oneself psychologically from the stress of unusual
feelings and discomfort (it is almost the same as hangover) and let the body
breathe and sleep. Extensive water consumption to boost circulation also
helps.

I train groups of tourists a mt. Kailash trek and four days of acclimatization
is enough for almost everyone.

I am myself capable of walking the same distances with rates comparable to
Tibetans - what kind of genetic mutation I have undergo?)

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roberthahn
Thinking out loud here, as I'm not a physicist or engineer: I wonder if this
type of mutation could impact space suit design - would a suit engineered to
Tibetan environmental standards (lower pressure, 40% oxygen) for Tibetans, end
up being better in other areas? (lighter, more reliable, easier to manoeuvre
in)

~~~
nether
Probably, but it'd only be comfortable for Tibetans. NASA space suits are
pressurized to an altitude of 6,000 ft, which is about the same as a
commercial airliner cabin. You could loosen that requirement for hardier
astronauts, but it'd greatly restrict your astronaut candidate pool.

~~~
Crito
> _" NASA space suits are pressurized to an altitude of 6,000 ft, which is
> about the same as a commercial airliner cabin."_

This seems to check out, but I am not sure how to reconcile it with astronauts
needing to prebreath for a few hours before an EVA (since the ISS atmosphere
is comparable to Earth's at sea-level).

From what I can tell most passengers can tolerate up to 8000 feet
unpressurized, and although the planes climb fast enough to pop your ears I've
certainly never heard of anybody getting the bends.

I think maybe the difference is the difference between oxygen pressure, and
the total gas pressure? Space suits (unlike modern space _craft_ ) use pure
oxygen.

~~~
maxerickson
Wikipedia says they prebreath to get rid of nitrogen.

If I read correctly, they are breathing pure oxygen at a pressure that is
equivalent to breathing air at 6000 ft. So that agrees with your last
paragraph.

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tosseraccount
The genes are EGLN1 and PPARA

[https://en.wikipedia.org/wiki/EGLN1](https://en.wikipedia.org/wiki/EGLN1)
[EGLN1] is is a ubiquitous, constitutively synthesized transcription factor
responsible for upregulating the expression of genes involved in the cellular
response to hypoxia.

[https://en.wikipedia.org/wiki/Peroxisome_proliferator-
activa...](https://en.wikipedia.org/wiki/Peroxisome_proliferator-
activated_receptor_alpha) PPAR-alpha is a transcription factor and a major
regulator of lipid metabolism in the liver. PPAR-alpha is activated under
conditions of energy deprivation and is necessary for the process of
ketogenesis, a key adaptive response to prolonged fasting.[3]

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ChuckMcM
A little gene therapy and voila, a tour de france winner without using any
doping! Definitely going to be an interesting time for sports records.

------
vrepsys
Wondering if there could be a genetic test to determine where one should live
to achieve optimal health.

~~~
has2k1
Quickly thinking out aloud.

A probable rule of thumb, if you are not of mixed heritage, do not migrate,
stay where the many generations of your ancestors have lived.

If you are of mixed heritage, maybe then that genetic test may do
significantly better than any other rule of thumb.

------
lostlogin
This is better
[http://m.sciencemag.org/content/329/5987/72.abstract](http://m.sciencemag.org/content/329/5987/72.abstract)

~~~
sp332
Why is it better? It doesn't have any of the interviews.

~~~
benrapscallion
Because it's peer reviewed science and has the data, as opposed to opinions in
an interview.

~~~
tokenadult
A preliminary research study finding is often a WORSE source than a newspaper
article about the same finding, for some of the reasons laid out by LISP
hacker and Google director of research Peter Norvig in his online essay
"Warning Signs in Experimental Design and Interpretation."[1] A journalist who
uses Norvig's essay as a checklist, or who happens to interview other
scientists who think that way as a matter of habit, can also find a lot of
errors in journal articles that pass even the high standards of peer review at
_Science._ [2]

[1] [http://norvig.com/experiment-design.html](http://norvig.com/experiment-
design.html)

[2] [http://www.theatlantic.com/technology/archive/2012/07/the-
ca...](http://www.theatlantic.com/technology/archive/2012/07/the-case-study-
of-arsenic-life-how-the-internet-can-make-science-better/259581/)

[http://blogs.discovermagazine.com/loom/category/arsenic-
life...](http://blogs.discovermagazine.com/loom/category/arsenic-
life/#.UtnClRDnbGI)

~~~
benrapscallion
@tokenadult The irony of this is not lost on me, because you quote a non-peer
reviewed blog post to justify non-peer review blog posts over peer reviewed
articles.

------
tokenadult
"A mutation in the gene that is thought to affect red blood cell production
was present in only 9% of the Han population, but was found in 87% of the
Tibetan population."

Okay, so according to the news article kindly submitted here, the gene pattern
is not invariant in the Tibetan population, nor is it absent from the non-
Tibetan population. And this is what we would expect from hundreds of previous
studies of human genetics--there is genetic variation within each
geographically defined human population, even when the populations are under
very strong selection pressure (as here, for this trait). And note too the
"thought to affect red blood cell production," as gene mechanisms are still
generally very poorly understood.

Way back in the 1970s, I had a student part-time job in the medical school of
the University of Minnesota, and one of the physician-professors there then
was writing grant applications to try to get to Tibet to study high-altitude
adaptations that were presumed to be present in populations that had lived on
the high Tibetan Plateau since thousands of years ago. It has taken a long
time even to confirm that hypothesis, but already we see that some Tibetans
live at high altitude, as their ancestors have for a long time, WITHOUT those
gene adaptations. Individual human adaptability is amazing, in many ways even
more amazing than the selection pressure on gene assemblages that gives me my
white skin (the ancestral human condition was surely dark skin). Human beings
can climb Mount Everest without bottled oxygen (please don't try this at home)
and humans from whatever ancestral region can live in whatever other region of
the world, perhaps in discomfort, but can grow and reproduce there. Human
adaptability is quite amazing.

AFTER EDIT: To answer a question I was asked,

 _Are you pushing in the direction of "Tibetans are indistinguishable from
Chinese and Tibet is China"?_

No, my answer was not political. (I don't have a Free Tibet bumper sticker on
my car, as many of the drivers in this state do, but I'm generally sympathetic
with that point of view as to the national sovereignty of historical Tibet,
which includes a lot more territory than the current Tibet Autonomous
Territory administered by the P.R.C. regime in China.) My statement is
biological and VERY general--every genetic study of every geographically
defined population in every part of the world finds gene variation in that
population, and many of the gene variants found are known to occur in other
populations. (Checks for freely downloadable links to post here.)

[http://www2.webmatic.it/workO/s/113/pr-1400-file_it-
Barbujan...](http://www2.webmatic.it/workO/s/113/pr-1400-file_it-Barbujani-
Colonna.pdf)

[http://www2.webmatic.it/workO/s/113/pr-1611-file_it-
Barbujan...](http://www2.webmatic.it/workO/s/113/pr-1611-file_it-
Barbujani%20Pigliucci%20CurrBio.pdf)

So, no, even if two populations are all but indistinguishable on genetic
grounds (Norway and Sweden come to mind), there may be grounds for distinct
national governments, on historical and geographic and cultural grounds, and
even if a national population includes substantial genetic diversity within
the basic human pattern of all of us being very similar (for example, the
United States, or Canada, or Russia, or China), there may be grounds for
preserving national unity that groups together substantial genetic diversity.
(Again, I must stress that human beings have exceptionally little species-wide
genetic diversity, but what diversity they have is found within even narrowly
defined geographic populations.) The political issue has nothing to do with
the scientific issue of looking for genes.

~~~
jhallenworld
A perhaps interesting side note: when I played around with genetic algorithms
it became obvious that initial randomness (or randomness already present in
the gene pool) in combination with chromosomal crossover was far more
important than other types of mutation for the create of interesting new gene
variants.

Anyway, I remember this rule of thumb from somewhere: if a gene gives just a
1% survival advantage, it would take over the population in only 100
generations. It sure seems like this is happening in Tibet.

~~~
lostlogin
I wonder if the Chinese occupation is having any effect. I could imagine that
either ethnic Chinese inflow or native population outflow might make things
change. I had a brief google session trying to see if there is any population
change recorded, but I didn't get an answer.

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alixaxel
There's a documentary (Are We Still Evolving / Through the Wormhole) that
explores this and some other cases.

