The genetics of white finger disease
Vibration-induced white finger disease (VWF) is caused by continued use of vibrating hand held machinery (high frequency vibration >50 Hz), and affects tens of thousands of people. New research published in BioMed Central's open access journal Clinical Epigenetics finds that people with a genetic polymorphism (A2191G) in sirtuin1 (SIRT1), a protein involved in the regulation of endothelial NOS (eNOS), are more likely to suffer from vibration-induced white finger disease.
VWF (also known as hand arm vibration syndrome (HAVS)) is a secondary form of Raynaud's disease involving the blood vessels and nerves of arms, fingers and hands. Affected fingers feel stiff and cold and loose sensation for the duration of the attack, which can be very painful. Loss of sensation can make it difficult to carry out manual activities. Initially attacks are triggered by cold temperatures but as the disease progresses attacks can occur at any time.
Little is known about what causes the restriction in blood flow, however researchers from Germany investigated the role of SIRT 1 by looking at polymorphisms (naturally occurring variations in DNA sequence) in people affected by VWF.
SIRT1 regulates activation of other genes by controlling how tightly DNA is wound in the nucleus. Tightly wound DNA cannot be 'read' and consequently cannot be used to make new protein. SIRT1 is known to regulate vasodilation by targeting eNOS, a nitric oxide synthase within the cells lining the inside of blood vessels, which regulates smooth muscle contraction, and hence the diameter of the vessel, and the amount of blood that can flow through it.
Of 113 polymorphisms tested, in the gene coding for SIRT1, only four actually affected the protein, the rest were non-coding or false positives. Of these four, only one was different between people with VWF and unaffected controls. A single nucleotide at position 2191 can either be an A or a G. In the unaffected population 99.7% had the A, but amongst the patients with VWF, almost a third had the G.
Dr Susanne Voelter-Mahlknecht from the University of Tuebingen, who led this study, explained, "While this does not mean that only people with the G version of the gene for SIRT1 will get VWF, it can be used to identify a set of people who would be at risk of VWF if they used vibrating hand held tools. Testing for this variant before starting to work with vibrating machinery could prevent years of pain and disability."
More information: Sirtuin1 single nucleotide polymorphism (A2191G) is a diagnostic marker for vibration-induced white finger disease Susanne Voelter-Mahlknecht, Bernd Rossbach, Christina Schleithoff, Christian-Lars Dransfeld, Stephan Letzel and Ulrich Mahlknecht, Clinical Epigenetics (in press)
Provided by BioMed Central
- Von Willebrand factor linked to bleeding complications Mar 09, 2012 | not rated yet | 0
- Evolution provides clue to blood clotting Jul 20, 2011 | not rated yet | 0
- New findings highlight the role of endothelial cell activation in children with cerebral malaria Mar 20, 2009 | not rated yet | 0
- Probing the mechanism of ADAM28-mediated cancer metastasis Jun 08, 2012 | not rated yet | 0
- Gene linked to aging also linked to Alzheimer's Jul 22, 2010 | 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
Classical and Quantum Mechanics via Lie algebras
Apr 15, 2011 I'd like to open a discussion thread for version 2 of the draft of my book ''Classical and Quantum Mechanics via Lie algebras'', available online at http://lanl.arxiv.org/abs/0810.1019 , and for the...
- More from Physics Forums - Independent Research
More news stories
Two mutations central to the development of infantile myofibromatosis (IM)—a disorder characterized by multiple tumors involving the skin, bone, and soft tissue—may provide new therapeutic targets, according to researchers ...
Genetics 6 hours ago | 5 / 5 (1) | 0 |
Can human genes be patented? That was the question posed by Alan J. Snyder, vice president and associate provost for research and graduate studies at Lehigh, and Lee Kaplan, scientific director of cellular and molecular genetics ...
Genetics 14 hours ago | 4 / 5 (1) | 0
Researchers from Queen Mary, University of London have led the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases.
Genetics May 22, 2013 | 4.5 / 5 (4) | 0 |
University of Minnesota Medical School researchers from the Masonic Cancer Center, University of Minnesota, in partnership with the University's Brain Tumor Program, have developed a new mouse model of malignant peripheral ...
Genetics May 20, 2013 | 5 / 5 (1) | 0 |
Northwestern University scientists have shown a gene involved in neurodegenerative disease also plays a critical role in the proper function of the circadian clock.
Genetics May 16, 2013 | 3 / 5 (1) | 1 |
(Medical Xpress)—A new study by researchers in the US has shown that an ancient virus can be modified to help in the fight against the simian immunodeficiency virus SIV, which is the equivalent in monkeys ...
12 hours ago | 5 / 5 (3) | 0 |
Women at a particular stage in their monthly menstrual cycle may be more vulnerable to some of the psychological side-effects associated with stressful experiences, according to a study from UCL.
9 hours ago | 5 / 5 (2) | 0 |
Biological processes are generally based on events at the molecular and cellular level. To understand what happens in the course of infections, diseases or normal bodily functions, scientists would need to ...
10 hours ago | 5 / 5 (2) | 0 |
Talking on a hands-free device while behind the wheel can lead to a sharp increase in errors that could imperil other drivers on the road, according to new research from the University of Alberta.
6 hours ago | not rated yet | 0
(HealthDay)—Comorbid conditions often accompany alopecia areata, according to a study published online May 22 in JAMA Dermatology.
7 hours ago | not rated yet | 0
Kate O'Reilly's spring allergy survival kit includes the usual stuff - nasal sprays, allergy pills and a box of tissues. This season, she's added a new weapon to her line of defense: an app on her smartphone.
7 hours ago | not rated yet | 0