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21.8.17

My most favorite gene

Well, I think I can say that I am a pretty good geneticist, published at least 30 papers in internationally recognized journals that cover topics such as genetics of cancer, genetics of neurological diseases, genetics of stem cells and of embryonic development and a lot about the inherited susceptibility for diseases after environmental stress.

Now, in my early 50s, I have to anticipate that my own genome is also not free of any disease-predisposing abnormalities. I recognized some odd pain in my leg muscles about 10 years ago, when some really horribly pains struck me after walking down the stairway from our 5th floor apartment. 
After consulting various specialist doctors I ended up at the F.Miescher Clinic in Munich, which is specialize for neuro-muscular diseases. After taking a biopsy from my upper leg muscle they found that one enzyme, glycogene-phosphorylase V was completely absent. A subsequent genetic analysis that I did in our own lab confirmed that I am homozygous for a rare null-allele of the gene PYGM. McArdles disease, which is caused by this congenital condition, has a population frequency of 1 in 100.000. As in my case, both parents are hetrozygous carriers (i.e. they carry one disease allele, but are both un-affected), and I was the unlucky case of inheriting from both my mom and my dad their abnormal copy of PYGM. So I have the two bad copies in my germline, therefore I have the disease. 
O.k., I have to admit it is a disease one can live with quite easily.

There is
-  no life shortening associated
-  in my case, severe muscle pain only while climbing down (strange, I can climb up thousands of meters in the mountains, but not 10 meters downhill)
-  no problem riding the bicycle
-  no problem going dancing
-  no problem going skying (down-hill, long-distance, or touring)

When I walk down a long stairway, however, or if I climb down a hill, I got really bad muscle cramps which indicate severe destruction of muscle fibers (rhabdo-myelosis).
The only way to ease this pain in the past was to increase the glucose uptake before physical activity. But this was only partly efficient. No I got something new (and I have to admit that I found it through the internet at a patients forum:  It is a special kind of sugar (called D-Ribose, of which all our RNA molecules are made of), and it is prescribed against general muscles fatigue. The idea is, that D-Ribose can bridge the time between the depletion of glukose-generated ATP in the muscle cells and the production of new glucose from serum glycogen (which is impaired in McArdles patients) by quickly providing an energy source to the mitochondria.  
I have to admit that I am not a very good biochemist, so I don't know exactly how and where D-Ribose can be used in  the mitochondrial cycle. So I have to believe that it works.
From next week on, we will do our annual vacations in Bulgaria, and there are mountains of various levels of altitude, where I can do a controlled study with and without D-Ribose administration (because there is only a small market for D-Ribose, the stuff is about 50 x more expensive that ordinary sugar. So not really the stuff I will use to sweeten my tea with).

I will seriously report about it here. However will be the results:  These mountains are pretty impressive and beautiful anyway.  In the worst case, I will be caught on the very peak, and not being able to get home.  Than somebody has to come and catch me with a rescue helicopter.


Addenum: Maybe I should explain  why I nominated PYGM my most favorite gene: The germline mutation Arg50X (which causes expression of a truncated, inactive glycogen phosphorylase enzyme) not only predisposes strongly for McArdles disease with its sometimes painful muscles cramps, it has the beneficial side effect that the glukose level in blood serum is always quite low (because the muscle cells have to satisfy all their energy need from the free circulating glucose). This has the consequence that very little glucose is available to be converted in fatty acids and stored in the form of dad bod. So McArdle patients are usually pretty in shape, and even when they eat as much as they want, they have no problems keeping their body weight.

20.8.17

Astronomy in the Trump era

Here is what you get if a person that never in life red a book suddenly feels entitled to teach the public about what is right and what is wrong:

WASHINGTON (The Borowitz Report)—Attacking the media for its “very unfair” coverage of Monday’s solar eclipse, Donald J. Trump said on Saturday that the sun was equally to blame for blocking the moon. “The fake news is covering the eclipse from the sun’s side instead of the moon’s side, but if you look at it from the moon’s side the sun is blocking the moon’s side,” he said. “There are so many sides you can’t count all the sides.” Additionally, Trump tore into the sun itself, calling it a “showboat” for its role in the solar eclipse. “The sun thinks the world revolves around it,” Trump said. “Sad.” Trump said the sun was a “big problem” that his predecessor, Barack Obama, did nothing to solve, but that that situation was about to change. “It will be handled—we handle everything,” Trump said, adding that a preëmptive military strike on the sun was “very much on the table.”

On Monday, Trump had still doubts of the real possibility that the sun could hide behind the moon, and therefore he took a quick look to the spectacle - with bare eyes (who cares, if you are already politically blind).
Maybe he has some unused preservatives in his bath-room drawer. In this case I could instruct him how to use them for building a pair of ad-hoc eclipse protection glasses.


31.7.17

Evening confession

I sit in our garden after a day working in the lab on CrispR/Cas9 knocking out a newly discovered genome sequence from mouse zygotes. In general, I am a big proponent of new technologies, be it in IT, space research, or genetics, which is my own field of research. I do not see any reason to limit human ambitions to discover nature and to change nature, if we have good reasons that this will improve our life.
Now I sit in our garden, it is perfectly silent, only occasionally I can hear a blackbird rustling under the bushes. A dragon fly is drawing the most elegant trajectories in the air. Our dog Ivo is carefully watching me, expecting some sorts of gift. Even the big samovar, left from the garden party a few days ago, seems in perfect harmony with the flora and fauna around. The clouds are forming a pattern of self-organized stripes in the sky, and everything appears as perfectly peaceful.

I can not imagine that this is all endangered by my rational believe in the power of mankind over nature.

20.7.17

Good luck, bad luck

“You never know what worse luck your bad luck has saved you from.” 

For the staff of the Munich-Freimann fire brigade this quote by Cormac McCarthy perhaps brought small comfort, when they found their station together with the fire engines going up in flames.

 

But at least they could meet fire fighters from other places nearby, who were quickly responding to their request for help.
 

1.6.17

UNFAIR: British Tourists use unfair methods to beat the Germans on the Pool Chair Battle

New study shows that british tourists use oversized and missreplaced towels in an attempt to beat the Germans on the pool chair battle. This is an unfair method ("bad, very bad") and will soon be stoped.






British tourists are winning the sunlounger wars in Spain, waking up hours earlier than their rivals to secure a comfortable spot by the pool, an investigation into the habits of holidaymakers in Spain has revealed.
Germany's Bild newspaper observed British tourists at a resort in Alcudia, Majorca, placing their towels on loungers to "reserve" them as early as 6am. One Briton went the extra mile by using a towel with the word "reserved" on it. By 8.51am all of the loungers were taken, but the holidaymakers were nowhere to be seen, Bild wrote.
The newspaper quoted Stephen from Barnsley, who reserved three loungers at the Bellevue Club hotel at 6am. He returned to the pool with his wife and son a full four hours later, ready to enjoy his prize.
"Luckily, I'm an early bird," he said.
The investigation follows a similar operation last year, when the newspaper visited in Lloret de Mar on the Costa Brava.



Then, not one tourist had laid down a towel by 7.36am, indicating that the towel wars have intensified in the past 12 months, forcing holidaymakers to wake up even earlier to secure a sunlounger.
Bild said that the Germans and British were the “undisputed masters” of sunbed blocking, though its investigation identified only British sunlounger hogs. Two German tourists quoted, Sabrina and Kai, both teenagers, got there too late. “When we arrived everything was already taken,” Sabrina said.
The paper called on readers to ask hotel management to remove towels because "no one has the right to a reserved lounger".
The investigation will surprise many British tourists, who complain that Germans usually beat them to the best loungers by waking early.

17.5.17

Beavis and Mike-Head

The new White House government urges CNN to work harder than ever before. The heavy load of round the clock discussion could only be dealt with by hiring news speakers from other channels.


22.8.16

Camille Paglia on the Tim Hunt dispute

TIm Hunt has achieved great merrits for the discovery of cell cycle regulating proteins. This was an enormous contribution to understand embryonal development and malignant diseases, and was acknowledged with a nobel award to him and two other scientists some years ago. In 2015, however, all of Tims achievements were judged dispensible by the UCL London in view of a few political non-correct remarks he did about girls in science.

I have to ask Camille Paglia about her opinion on this case.

17.8.16

Asynchrony

When parts of a larger system seem to follow their individual time. This can confuse a human being totally, since we got used to experience time as an absolute parameter. We can easily imagine that for instance different temperatures occure (like in the kitchen it is hotter near the oven than near the sink). But we simply can not imagine that time runs faster near the oven than near the sink. Imagine that the water drops from the tap falling down the sink much slower (like in slow motion) than the drops of water that fall of the tea pot. Sometimes such effects are exploited in computer-generated movies, such as "Inception", but also in TV commercials. Than one sees the main actor moving around in an environment where time is frozen to a single moment. One is reminded of brother Grimms fairy-tale "Sleeping Beauty", when the prince enters the hidden castle and sees everything has fallen in a hundred years lasting sleep. Not only all people and animals are sleeping, but even the flames of the kitchen fire have stoped instantly and seem to be frozen. 

Whereas it is not so easy for us to fully understand the concept of physical relavity as discovered by Albert Einstein, it is easy to manipulate images or video sequences such a way that separate objects follow their own time schedule.

The image below, for instance, is composed of two photos.  The moon has been captured already 3 years ago, whereas the meteor (part of the Perseides shower) has been captures recently.



Read more books, live a longer life

Reading good books enriches our lifes. We can share experiences of others, sometimes romantic, sometimes painful, and by spending a few days to read a novel we can jump in other times, in another society and in another personality. Reading books is really a good investment of the short time that is given us in life.
But now a new study from Yale University shows that we not only gain knowledge and wisdom from reading fiction books, but that it can directly extend our physical life time. 
The study, which is published in the September issue of the journal Social Science & Medicine, looked at the reading patterns of 3,635 people who were 50 or older. On average, book readers were found to live for almost two years longer than non-readers. “When readers were compared to non-readers at 80% mortality (the time it takes 20% of a group to die), non-book readers lived 85 months (7.08 years), whereas book readers lived 108 months (9.00 years) after baseline,” write the researchers. “Thus, reading books provided a 23-month survival advantage.”
The paper also specifically links the reading of books, rather than periodicals, to a longer life. “We found that reading books provided a greater benefit than reading newspapers or magazines. We uncovered that this effect is likely because books engage the reader’s mind more – providing more cognitive benefit, and therefore increasing the lifespan,” the authors concluded.

Although I like the result of this study a lot, and I intuitively strongly believe in their conclusion, from a methodological point of view it suffers from the same shortcomings as many other retrospective social studies. The studies usually analyse questionaires they receive from randomly picked individuals. No doubt, analysing 3, 635 peoples health status and their reading behaviour is a vast amount of work and an association found between the reading habits and health status will be significantly and reproducible. 
But what remains to be shown is the causality. I.e. can I increase my life expectancy (or this of my children) if I or if we force ourself to read more books ?  And this is not clear, and the Yale study also has no answer to this. In epidemiology there is this well-known phenomenon of "reverse causation", which in the current studies could also underly the reported association. If one assume that any genetic or epigenetic factor (or a combination of those) improves a persons health status in general (including mental health, but also neuro-sensory fitness such as eye vision), this will independently lead to an incraesed longevity but at the same time also to a higher prefenrence to enrich ones life by reading good books. So these two outcomes of a questionaire, health status/life expectancy and frequency of reading books will automaticly be linked, cause they are influenced strongly by the same underlying inherent factors (genetic composition and epigenetic praegung). So they are clearly linked to each other, but not causing each other. 
The only solid prove of a causation of book reading and longevity would be a so-called randomized study (as they are state-of-the-art in clinical trials to test the therapeutic effect of new drug or method). Here, a large number of volunteers have to be recruited, and they assigned to a control and a test group randomly. And these two groups have to follow a defined protocol, whether they liek it or not. The control group should not read books (even if some group members are real book freaks), whereas the members of the test group all should read a defined minimal numbers of books (per month) whether they like books or not. And this study has to be followed over years or decades, of course. One could then do a simple non-parametric test (like Man-Whitney or Wilcoxon) for the attained age at death and could easily found if an intentional increase in book reading helps to extend life span. 
I am happy to notice that for me this problem does not exist, since I like to read books quite naturally. Assuming that I am not hampered by other life-shortening factors (such as working as a roof-layer or on a oil-platform or smoking or drinking extensively) I know that I fell in the group of 23 month longer than average live span, whether it is caused by my love to read books or by another congenital factor.
Twenty-three month is really a lot, sondiering that I have already gained 19 extra month by living with our dog Ivo, another 37 month by having a higher education, and another 16 month by living in a stable partnership. Whow, so much extra time, I have to think of how to spend it useful. 
I first will read more books, I think.  I have recently discovered Gaito Gasdanov, a contemporary writer of Vladimir Nabokov with a great classical writing style. I bought for the coming holiday season:
"The Return of the Buddha "

11.8.16

The 2016 Perseides Meteor Shower

Don"t know were you spend the evening tonight, but I"d like to remind you of the Perseides Meteor Shower that is most prominent these days. I think to watch them is also a good remedy for the sadness that one usually gets before beloved people leave.
Every 12 years, the constellation of earth and jupiter is such that the orbital trace of the perseides is slightly diffracted towards the earth, and therefore further increasing the frequency of meteors that appear as bright tracks on the night sky.
perseiden
Since the next two days might be quite cloudy, I think tonight is the only chance to view the fallen stars (nice term, isn"t it. Maybe we can see fallen stars like Whitney Houston, Britney Spears or Mikey Rourke tonight, or Michael Schumacher, Maradonna and the like).
To be honest, a real Meteor is much nicer than these celebrities that greet us every day from the yellow-press.
To help you find the Perseides and have a good chance to spot some of the meteors, I made a scheme for you to get an orientation on the night sky.



First try to find the north-eastern direction . Then turn your head further to the right, untill you see somewhere a very prominent constellation of stars called Cassiopeia (like a hughe W on the sky). Below or slightly left of Cassiopeia (depending at what time at night you are there) there is the constellation called Perseus, and the Stjaernfallen should originate from this site.
As I told you, according to mythology, you can express a wish whenever you see a Stjaernfallen, but you should not tell anybody about it.