Navigation Links
Laminopathies: Key components in the disease mechanism identified
Date:5/7/2013

Laminopathies are hereditary diseases that affect mainly the muscle tissue. These diseases include for example Emery-Dreifuss Muscular dystrophy, dilated cardiomyopathy, limb-girdle muscular dystrophy and Hutchison-Gilford progeria syndrome.

The underlying defect in these diseases is mutation in the genes encoding lamins or lamin-associated proteins. For example, many mutations in the lamin gene LMNA have been associated with different diseases.

Lamins are crucial components of the nuclear lamina that underlies the inner side of nuclear envelope, and provides mechanical stability to the nucleus. Lamina also participates in many different nuclear processes.

Two theories exist, why mutations in the lamina components cause disease. According to the first theory, mutations cause changes in the nuclear structure, which can lead to cell death in tissues that undergo harsh mechanical strain, such as the muscle. The second theory postulates that disturbed lamina causes changes in the gene expression patterns that are then deleterious for the cell.

A collaborative study between American and Finnish scientists bridge these two theories. The study shows that abnormal structure of the nuclear lamina, caused by laminopathy mutations, lead to changes in gene expression by disturbing the function of a specific transcription regulating protein.

The researchers found out that in laminopathy cells, the regulation of SRF (serum response factor), which controls the expression of many important genes, is disturbed. The molecular basis for this is that LMNA mutations that cause laminopathy alter the cellular localization of emerin, which is an important constituent of the nuclear envelope. Emerin regulates actin in the cell nucleus, and actin in turn is a critical regulator of SRF activator MKL1. Therefore, mis-localized emerin in laminopathies results in reduced activation of SRF by MKL1, and reduced expression of SRF target genes. Because many SRF target genes are critical for muscle function, this finding explains, why laminopathies affect mainly this tissue type. It also gives a mechanistic link between altered nuclear envelope structure and gene expression.

This study will give a glimmer of hope to the patients suffering from laminopathies, by identifying key components that underlie the disease mechanism. Restoring MKL1 activity in laminopathies might be a productive intervention mechanism for these devastating diseases.


'/>"/>

Contact: Maria Vartiainen
maria.vartiainen@helsinki.fi
358-919-159-419
University of Helsinki
Source:Eurekalert

Related biology news :

1. Intersil Expands Precision Analog IC Offerings with Micross Components
2. Micross Components Recognized as Teledyne Electronic Manufacturing Services Manufacturer of the Year
3. Manufacturing crack-resistant lightweight components
4. Production of FRP components without release agents
5. Researchers identify new components of the epigenetic code for honey bee development
6. Parkinsons disease stopped in animal model
7. Disease-carrying colonizers on the move: Predicting the spread of ticks across Canada
8. U of Alberta researcher steps closer to understand autoimmune diseases
9. Common North American frog identified as carrier of deadly amphibian disease
10. New insight into mechanisms behind autoimmune diseases suggests a potential therapy
11. Genetic research develops tools for studying diseases, improving regenerative treatment
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/3/2016)... --> --> Fourth quarter ... up 1,187% compared with fourth quarter of 2014. Gross margin ... (loss: 30.0). Earnings per share increased to SEK 6.39 (loss: ... (neg: 74.7). , --> --> ... 2,900.5 M (233.6), up 1,142% compared with 2014. Gross margin ...
(Date:2/2/2016)... , Feb. 2, 2016  BioMEMS devices ... primarily focused on medical screening and diagnostic ... parameters. Wearable devices that facilitate and assure ... of movement are being bolstered through new ... biomedical signal acquisition coupled with wireless connectivity ...
(Date:2/2/2016)... RESTON, Va. , Feb. 2, 2016 /PRNewswire/ ... contract award from the U.S. Army Research Office ... extend the range and sensitivity of the company,s ... DoD,s Past Accounting Mission and, more generally, defense-related ... its DNA phenotyping capabilities (predicting appearance and ancestry ...
Breaking Biology News(10 mins):
(Date:2/9/2016)... ... 2016 , ... Net-Translators, an industry-leading provider of translation, ... and improved website. In an on-going effort to further educate customers and emphasize ... how the company designs and delivers thorough, high-quality results for its growing customer ...
(Date:2/9/2016)... , ... February 09, 2016 , ... ... over the years and Open Access publishing is one of the popular publication ... 700+ open access journals and 3000+ International Conferences across ...
(Date:2/9/2016)... , February 9, 2016 ... replace paper and protect IP   E-WorkBook 10 ... be rolled out in Germany early ... protect valuable IP. Users will be able to search for ... experiment as part of the application, to boost collaboration and ...
(Date:2/8/2016)... 8, 2016 /PRNewswire/ - BIOREM Inc. (TSXV: BRM) ("Biorem" or ... finalists for clean technology companies in the TSX Venture 50 ... companies listed on the TSX Venture Exchange, in each of ... clean technology & life sciences, diversified industries and technology ... to return on investment, market cap growth, trading volume and ...
Breaking Biology Technology: