Navigation Links
Lamin A/C deficiency is 'unnerving'
Date:1/5/2009

Mutations in the nuclear intermediate filament lamin A/C (LMNA) gene are associated with Emery-Dreifuss muscular dystrophy, but cause the disease by unknown mechanisms. Mjat et al. show that one mechanism involves the disruption of neuromuscular junctions.

The study will appear online on Monday, January 5, 2009 (www.jcb.org) and in the January 12, 2009 print issue of the Journal of Cell Biology.

Muscle fiber cells contain hundreds of nuclei. In normal fibers, several nuclei cluster together under the cell membrane at sites of neuronal contact. These postsynaptic nuclei synthesize the components of the neuromuscular junction that specify the overlying membrane as the target site for innervation. The authors found that LMNA-deficient animals (including those with a point mutation in LMNA that in humans can cause Emery-Dreifuss disease) failed to position nuclei into these postsynaptic clusters. This prevented the proper organization of the neuromuscular junction and disrupted muscle fiber innervation, says author Alexandre Mjat.

The authors showed that either loss or mutation of LMNA disrupted nuclear positioning by causing the mislocalization of two other proteins: Nesprin-1, which spans the outer nuclear membrane and anchors nuclei to the actin cytoskeleton, and SUN2, which spans the inner nuclear membrane, linking Nesprin to lamin A/C. Although lamin A/C is ubiquitously expressed, LMNA defects specifically affected striated and skeletal muscle because Nesprin-1 and SUN2 are highly expressed in these tissues. Samples from Emery-Dreifuss muscular dystrophy patients exhibit similar hallmarks of skeletal muscle functional denervation, suggesting the authors are on the right track.


'/>"/>

Contact: Rita Sullivan
rsullivan@rockefeller.edu
212-327-8603
Rockefeller University Press
Source:Eurekalert  

Page: 1

Related biology news :

1. Laminin builds the neuromuscular synapse
2. Scientists to discover why flamingos are in the pink of health -- in the poo!
3. Vitamin D deficiency in infants and nursing mothers carries long-term disease risks
4. Why some primates, but not humans, can live with immunodeficiency viruses and not progress to AIDS
5. Worldwide mission to solve iron deficiency
6. Bloodless worm sheds light on human blood, iron deficiency
7. A genetic cause for iron deficiency
8. RNA interference therapy heals growth deficiency disorder in a live animal
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Lamin A/C deficiency is 'unnerving'
(Date:4/18/2017)... 2017  Socionext Inc., a global expert in SoC-based imaging and ... the M820, which features the company,s hybrid codec technology. A demonstration ... Probe, Inc., will be showcased during the upcoming Medtec Japan at ... the Las Vegas Convention Center April 24-27. ... Click here for an ...
(Date:4/11/2017)... -- Research and Markets has announced the addition of ... offering. ... market to grow at a CAGR of 30.37% during the period ... has been prepared based on an in-depth market analysis with inputs ... growth prospects over the coming years. The report also includes a ...
(Date:4/5/2017)... Today HYPR Corp. , leading innovator ... of the HYPR platform is officially FIDO® Certified ... architecture that empowers biometric authentication across Fortune 500 enterprises ... over 15 million users across the financial services industry, ... product suites and physical access represent a growing portion ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... 12, 2017 , ... They call it the “hairy ball.” ... depiction of a system of linkages and connections so complex and dense that ... computer science at Worcester Polytechnic Institute (WPI) and director of the university’s bioinformatics ...
(Date:10/12/2017)... ... October 12, 2017 , ... RPS ... clinical study that demonstrates the accuracy of the FebriDx® test, a commercially-ready, ... acute bacterial and viral respiratory tract infections by testing the body’s immune ...
(Date:10/12/2017)... San Diego, CA (PRWEB) , ... ... ... BioInformatics (https://www.onramp.bio/ ) has launched Rosalind™, the first-ever genomics analysis platform ... eliminating all bioinformatics complexity. Named in honor of pioneering researcher Rosalind Franklin, ...
(Date:10/11/2017)... ... ... a basic first aid supply for any work environment, but most personal eye wash can ... a dangerous substance enters both eyes? It’s one less decision, and likely quicker response time ... , “Whether its dirt and debris, or an acid or alkali, getting anything in your ...
Breaking Biology Technology: