HOME >> BIOLOGY >> NEWS
Muscle weakness: New mutation identified

New research, published in The Journal of Physiology, has identified a novel mutation associated with muscle weakness and distal limb deformities. The study demonstrates that muscle weakness experienced by persons with a regulatory protein tropomyosin mutation is directly related to a mechanism by which the mutant tropomyosin modulates contractile speed and force-generation capacity.

Dr. Julien Ochala and co-workers at the Department of Clinical Neurophysiology, University of Uppsala, in collaboration with scientists at the Department of Pathology, University of Gteborg, explored the mechanisms underlying the muscle weakness experienced by a woman and her daughter with a β-tropomyosin mutation, i.e., muscle weakness in the absence of macro or microscopic signs of muscle wasting. The results from single fibre contractile measurements and in vitro motility analyses demonstrated a mechanism where tropomyosin modulates myosin-actin kinetics. A slower motor protein myosin attachment rate to and a faster detachment rate from actin, caused by the mutation, results in a reduced number of myosin molecules in the strong actin binding state and muscle weakness. The results also implicate a potential role of the regulatory protein tropomyosin in modulating contractile speed and force-generation under physiological conditions.

It is suggested that the findings at the gene, protein and muscle cell levels in this specific neuromuscular disorder will have a significant impact on our understanding of the disease pathogenesis and provide important information for future therapeutic strategies. Walter R. Frontera, an independent expert, says: "Dr. Ochala and collaborators have published elegant proof of the clinical consequences of mutations in the regulatory proteins of skeletal muscles. Their data provide strong support for the dissociation between qualitative alterations in muscle contractility and quantitative evidence of muscle atrophy".


'"/>

Contact: Melanie Thomson
melanie.thomson@oxon.blackwellpublishing.com
44-186-547-6270
Blackwell Publishing Ltd.
14-Jun-2007


Page: 1 2

Related biology news :

1. Muscle and bone from an ink-jet printer
2. Muscle of obese programmed to amass fat, genetic study finds
3. Muscle repair: Making a good system better, faster; implications for aging, disease
4. Muscle-targeted gene therapy reverses rare muscular dystrophy in mice
5. Muscle loss from space travel, prolonged inactivity linked to two genes
6. Muscle-building hand-grips aid systolic blood pressure, carotid AD, endothelial function
7. New gene mutation identified in common type of dementia
8. Researchers identify genetic mutation that may alter tumor cell proliferation
9. p53 gene mutations and inflammation trigger skin cancer
10. Researchers discover inherited mutation for leukemia
11. Gene mutation linked to cognition is found only in humans

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/6/2019)... ... June 05, 2019 , ... MedTech Breakthrough , an ... and medical technology market, announced that it has selected Medacta International’s MySpine® MC ... in the 2019 MedTech Breakthrough Awards program. , Medacta® is ...
(Date:6/4/2019)... (PRWEB) , ... June 04, 2019 , ... ... manufacturing of orthopedic medical devices, today announced Q1-19 revenues of $31M, up 12% ... combined with successful roll-out of strategic investments & operational excellence initiatives worldwide. , ...
(Date:6/4/2019)... ... June 04, 2019 , ... Most preclinical EEG ... seizure risk signals, usually based on variations of amplitude, frequency or spike train ... diagnostic methodology due to the complexity and variability of the signal, and automation ...
Breaking Biology News(10 mins):
(Date:6/11/2019)... , ... June 10, 2019 , ... ... and technology in an upcoming episode, scheduled to broadcast 4Q/2019. Check your local ... Group) and will educate viewers about how its technology facilitates laboratories to improve ...
(Date:6/11/2019)... BETHESDA, Md. and ROANOKE, Va. (PRWEB) , ... ... ... virtual care optimized for microlearning engagement, and Carilion Clinic, a national leader in ... leveraging the latest in virtual care. , Mytonomy recently deployed its ...
(Date:6/11/2019)... ... June 11, 2019 , ... A ... mesenchymal stem cells (MSC-EV) are able to incorporate into human CD34+ cells, modifying ... on mice, MSC-EVs also increased the cells’ ability to lodge into bone marrow. ...
(Date:5/31/2019)... ... 2019 , ... For many years, the primary forms of cancer treatment have ... Advances in immuno-oncology have led to the advent of Chimeric Antigen Receptor T (CAR ... receptors known as “CARs”. The CAR enables the final product to produce chemicals in ...
Breaking Biology Technology:
Cached News: