Navigation Links
Laminopathies: Key components in the disease mechanism identified

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
University of Helsinki

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:
(Date:6/2/2016)... , June 2, 2016 The Department ... has awarded the 44 million US Dollar project, for the ... Vehicle Plates including Personalization, Enrolment, and IT Infrastructure , ... in the production and implementation of Identity Management Solutions. Numerous ... however Decatur was selected for the ...
(Date:6/1/2016)... , June 1, 2016 ... in Election Administration and Criminal Identification to Boost Global ... a recently released TechSci Research report, " Global Biometrics ... Region, Competition Forecast and Opportunities, 2011 - 2021", the ... billion by 2021, on account of growing security concerns ...
(Date:5/16/2016)... NEW YORK , May 16, 2016   ... authentication solutions, today announced the opening of an IoT ... to strengthen and expand the development of embedded ... provides an unprecedented level of convenience and security with ... to authenticate one,s identity aside from DNA. EyeLock,s platform ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... 2016 /PRNewswire/ - BIOREM Inc. (TSX-V: BRM) ("Biorem" or "the ... major shareholders, Clean Technology Fund I, LP and Clean ... based venture capital funds which together hold approximately ... fully diluted, as converted basis), that they have entered ... equity holdings in Biorem to TUS Holdings Co. Ltd. ...
(Date:6/27/2016)... ... June 27, 2016 , ... Cancer experts ... they believe could be a new and helpful biomarker for malignant pleural mesothelioma. ... here to read it now. , Biomarkers are components in the blood, ...
(Date:6/27/2016)... ... 27, 2016 , ... Newly created 4Sight Medical Solutions ... the healthcare market. The company's primary focus is on new product introductions, to ... that are necessary to help companies efficiently bring their products to market. , ...
(Date:6/27/2016)... 27, 2016  Liquid Biotech USA ... of a Sponsored Research Agreement with The University ... (CTCs) from cancer patients.  The funding will be ... correlate with clinical outcomes in cancer patients undergoing ... then be employed to support the design of ...
Breaking Biology Technology: