Genetic observation reveals a bone-weakening mechanism
Bone structure and firmness partly rely on some genes. © Inserm - Daniel Chappard
(Medical Xpress)—An EPFL research team has used a novel method to identify a gene involved in bone building. Their results appear today in the advance online edition of the scientific journal Cell.
"Real life genetics" works. This research method involves observing physiological traits or metabolic disease in a large population of "wild-type" mice (those which have not been genetically modified), and then isolating the genes that could be responsible. Because it's complex and expensive, the method is rarely used, but it has nonetheless enabled EPFL researchers to obtain interesting results.
An article published today in the online edition of the journal Cell describes how the method was used to reveal a dysfunctional bone mineralization process. "We compared the genotype of mice with a fragile bone structure with mice that were more robust," explains Evan Williams, a scientist in EPFL's Laboratory for Integrative and Systemic Physiology (LISP). "By observing their genes, we were able to identify the one responsible for alkaline phosphatase (ALPL), whose malfunction leads to various forms of bone disease."
A factor in osteoporosis
Scientists were already familiar with hypophosphatase, a human disease caused by the absence of this gene that leads to extreme skeletal fragility from a very young age. "With this new discovery we can conclude that a defect in the gene expression for alkaline phosphatase affects bone strength in mature adults. In fact, fractures are the primary cause for hospitalization in the elderly," says LISP director Johan Auwerx. Pénélope Andreux, a co-author of the study, adds that the gene has other jobs in the cell as well: "it plays an important role in vitamin B6 absorption, which is involved in protein metabolism," she explains.
Very different characteristics
These results suggest that new therapeutic avenues might be possible for preventing osteoporosis, by acting on the enzymes associated with the expression of this gene. But that's not all. The study of this population of mice wasn't limited to their bones: no less than 140 parameters, such as body weight, running speed and fur color, were measured, and the results were often astonishing.
For example, in a single population and without any added stimulation, some mice spontaneously ran two km every night, while others ran twelve. And some mice had up to 6.7 times better glucose tolerance than others.
What could explain these differences? "Our results, which we have made available to the scientific community, will allow specialists in various fields to make associations between the genome of these mice and their physical and behavioral characteristics," says Auwerx. "Then it will be a matter of establishing correlations with the expression of the same genes in humans." Observing these mice populations will thus lead to many discoveries.
More information: Pénélope A. Andreux, Evan G. Williams et al., Systems Genetics of Metabolism : The Use of the BXD Murine Reference Panel for Multiscalar Integration of Traits. Cell, dx.doi.org/10.1016… .2012.08.012
Journal reference: Cell
Provided by Ecole Polytechnique Federale de Lausanne
- Tweaking a gene makes muscles twice as strong Nov 10, 2011 | not rated yet | 0
- An important breakthrough at the IRCM associated with osteoporosis Oct 04, 2011 | not rated yet | 0
- Bile acids may hold clue to treat heart disease Dec 06, 2011 | not rated yet | 0
- Scientists discover new protein that gets to the roots of obesity and osteoporosis Aug 31, 2010 | not rated yet | 0
- Researcher discovers epigenetic links in cell-fate decisions of adult stem cells Jul 09, 2012 | not rated yet | 0
- Motion perception revisited: High Phi effect challenges established motion perception assumptions Apr 23, 2013 | 3 / 5 (2) | 2
- Anything you can do I can do better: Neuromolecular foundations of the superiority illusion (Update) Apr 02, 2013 | 4.5 / 5 (11) | 5
- The visual system as economist: Neural resource allocation in visual adaptation Mar 30, 2013 | 5 / 5 (2) | 9
- Separate lives: Neuronal and organismal lifespans decoupled Mar 27, 2013 | 4.9 / 5 (8) | 0
- Sizing things up: The evolutionary neurobiology of scale invariance Feb 28, 2013 | 4.8 / 5 (10) | 14
Why is zone 1 in liver more prone to ischemic injury?
22 hours ago Hi, Is it because around central vein, there is only deoxygenated blood from the vein where as in the periphery there is hepatic artery. Also why...
How can there be villous adenoma in colon, if there are no villi there
May 22, 2013 As title suggest. Thanks :smile:
How can there be a term called "intestinal metaplasia" of stomach
May 21, 2013 Hello everyone, Ok Stomach's normal epithelium is simple columnar, now in intestinal type of adenocarcinoma of stomach it undergoes "intestinal...
Pressure-volume curve: Elastic Recoil Pressure don't make sense
May 18, 2013 From pressure-volume curve of the lung and chest wall (attached photo), I don't understand why would the elastic recoil pressure of the lung is...
If you became brain-dead, would you want them to pull the plug?
May 17, 2013 I'd want the rest of me to stay alive. Sure it's a lousy way to live but it beats being all-the-way dead. Maybe if I make it 20 years they'll...
MRI bill question
May 15, 2013 Dear PFers, The hospital gave us a $12k bill for one MRI (head with contrast). The people I talked to at the hospital tell me that they do not...
- More from Physics Forums - Medical Sciences
More news stories
By discovering the new mechanism by which estrogen suppresses lipid synthesis in the liver, UC Irvine endocrinologists have revealed a potential new approach toward treating certain liver diseases.
Medical research 10 hours ago | not rated yet | 0 |
Aortic arch pulse wave velocity, a measure of arterial stiffness, is a strong independent predictor of disease of the vessels that supply blood to the brain, according to a new study published in the June issue the journal ...
Medical research 10 hours ago | not rated yet | 0
Since the discovery of Prontosil in 1932, sulfonamide antibiotics have been used to combat a wide spectrum of bacterial infections, from acne to chlamydia and pneumonia. However, their side effects can include serious neurological ...
Medical research 12 hours ago | not rated yet | 0 |
Scientists at the National Institutes of Health report they have discovered in mouse studies that a small molecule released in the spinal cord triggers a process that is later experienced in the brain as ...
Medical research 12 hours ago | 5 / 5 (2) | 0 |
Spanish researchers have discovered that the daily clearance of neutrophils from the body stimulates the release of hematopoietic stem cells from the bone marrow into the bloodstream, according to a report published today ...
Medical research 13 hours ago | 5 / 5 (2) | 0
(Medical Xpress)—Regulating the distribution of power in neurons is done by a system that makes the national electric grid look simple by comparison. Each neuron has several thousand mitochondria confined ...
8 hours ago | 4.8 / 5 (5) | 0 |
A brief visual task can predict IQ, according to a new study. This surprisingly simple exercise measures the brain's unconscious ability to filter out visual movement. The study shows that individuals whose ...
14 hours ago | 4.4 / 5 (9) | 0 |
Teams of highly respected Alzheimer's researchers failed to replicate what appeared to be breakthrough results for the treatment of this brain disease when they were published last year in the journal Science.
12 hours ago | 5 / 5 (1) | 2 |
Little is known about why asthma develops, how it constricts the airway or why response to treatments varies between patients. Now, a team of researchers at Weill Cornell Medical College, Columbia University Medical Center ...
12 hours ago | not rated yet | 0 |
High blood glucose is associated with poor outcomes in hospitalized patients, and use of intensive insulin therapy (IIT) to control hyperglycemia is a common practice in hospitals. But the recent evidence does not show a ...
2 hours ago | not rated yet | 0
Ethnic background plays a surprisingly large role in how diabetes develops on a cellular level, according to two new studies led by researchers at the Stanford University School of Medicine.
10 hours ago | not rated yet | 0 |