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 gene
'/>"/>

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

Page: 1 2

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:10/17/2014)... University of Copenhagen have shown for the first time ... Cystic fibrosis patients, giving them the opportunity to get ... infections. , The study also discovered the bacterial growth ... was halted or slowed down by the immune cells. ... oxygen and helped "suffocate" the bacteria, forcing the bacteria ...
(Date:10/16/2014)... William and Mary,s Virginia Institute of Marine Science ... Environmental Protection Agency to identify the streams and ... develop tools to help local governments and citizens ... critically on a dataset of tidal-marsh observations first ... with this historical baseline can today,s researchers accurately ...
(Date:10/16/2014)... can be cultivated efficiently, they are anything but ... by monoculture cultivation is becoming increasingly evident. Despite ... form and are regarded as the sole possibility ... quite wrongfully, finds Bernhard Schmid, an ecology professor ... novel form of agriculture and forestry. After all, ...
Breaking Biology News(10 mins):Scientists opens black box on bacterial growth in cystic fibrosis lung infection 2EPA grant will help localities conserve headwater wetlands 2EPA grant will help localities conserve headwater wetlands 3Plant communities produce greater yield than monocultures 2Plant communities produce greater yield than monocultures 3
... 3dMD, the 3D surface imaging system and software developer ... than a decade, announces the availability of its recently ... support serious research into quantifying and measuring human anatomical ... focused on generating virtual avatar effects for application in ...
... data at unprecedented speeds. Making sense of these ... databases is an increasingly difficult and complex task. ... Philip Morris International (PMI) R&D launched a project ... Research) in May with the aim of challenging ...
... of pregnancy and the major cause of death for both ... about one in 20 pregnancies. The main symptoms are high ... preeclampsia is still unclear. Dr. Florian Herse (Experimental and Clinical ... the Charit), Dr. Ralf Dechend (ECRC and Helios Klinikum Berlin-Buch) ...
Cached Biology News:3dMD Transitions Anatomical Research from 3D-Static to 4D-Movement Surface Imaging 23dMD Transitions Anatomical Research from 3D-Static to 4D-Movement Surface Imaging 3An international competition reaffirms the potential of bioinformatics in the diagnosis of disease 2New risk factor identified for high blood pressure during pregnancy 2New risk factor identified for high blood pressure during pregnancy 3New risk factor identified for high blood pressure during pregnancy 4
(Date:10/22/2014)... DUBLIN , Oct. 22, 2014 ... "Organic Electronics Market by Material, by Application, Geography ... report to their offering. Organic electronics, ... a branch of material science which deals with small ... as organic because small molecules and polymers are carbon ...
(Date:10/20/2014)... 2014 Convey Computer , the ... from Iowa State University won first place in the ... Convey HC-2ex, the team’s solution achieved the highest overall ... the second place finisher. , Experts from all segments ... month long challenge, using a variety of design tools, ...
(Date:10/20/2014)... Oct. 20, 2014  GenVec, Inc. (NASDAQ: GNVC ... , Ph.D., from its board of directors effective on October ... 2003, and served as its chairman from June 2006 to ... Nominating and Corporate Governance and Audit Committees of the board.  ... a decade of dedicated service to GenVec, and its stockholders," ...
(Date:10/20/2014)... Tigard, OR (PRWEB) October 20, 2014 ... to participate in an investigational study of donor stem ... nationally in stem cell therapy and has performed clinical ... of this study is to determine if a single ... arthritically affected joints can help reduce pain and inflammation ...
Breaking Biology Technology:Global Organic Electronics (Semiconductor, Conductive, Dielectric and Substrate) Market - Analysis and Forecast (2014 - 2020) 2Global Organic Electronics (Semiconductor, Conductive, Dielectric and Substrate) Market - Analysis and Forecast (2014 - 2020) 3Team from Iowa State Wins 2014 MemoCODE Design Contest Using Convey HC-2ex 2Team from Iowa State Wins 2014 MemoCODE Design Contest Using Convey HC-2ex 3Zola P. Horovitz To Retire From GenVec Board 2Cascade Veterinary Referral Center Seeks Candidates for an Investigational Study of Stem Cells for Dogs with Arthritis 2
... KEELE, England, July 27 ... developed by the Pioneering Orthobiologics,Company, Biocomposites, ( ... superior bone regenerative properties due,to its unique negative ... The research carried out by the hospital ...
... 27 Micromet, Inc. (Nasdaq: MITI ), a ... cancer, inflammation and autoimmune diseases, today announced that it will ... 6, 2009, at 9:00 am Eastern Time (3:00 pm Central ... quarter of 2009. Micromet anticipates releasing its financial results at ...
... , MADISON, N.J., July 24 Quest ... of diagnostic testing, information and services, today announced that the U.S. ... to the company,s Focus Diagnostics business for its test for detecting ... of influenza A virus initially referred to as the swine flu ...
Cached Biology Technology:Independent Study Confirms Superior Properties of ZPC(TM) Enhanced Calcium Composite Bone Grafts 2Micromet, Inc. to Host Conference Call and Webcast to Report Second Quarter 2009 Financial Results on August 6, 2009 2Micromet, Inc. to Host Conference Call and Webcast to Report Second Quarter 2009 Financial Results on August 6, 2009 3Micromet, Inc. to Host Conference Call and Webcast to Report Second Quarter 2009 Financial Results on August 6, 2009 4FDA Grants First Authorization of a Commercial 2009 H1N1 Flu Test for use During Pandemic Flu Emergency to Quest Diagnostics' Focus Diagnostics Business 2FDA Grants First Authorization of a Commercial 2009 H1N1 Flu Test for use During Pandemic Flu Emergency to Quest Diagnostics' Focus Diagnostics Business 3FDA Grants First Authorization of a Commercial 2009 H1N1 Flu Test for use During Pandemic Flu Emergency to Quest Diagnostics' Focus Diagnostics Business 4FDA Grants First Authorization of a Commercial 2009 H1N1 Flu Test for use During Pandemic Flu Emergency to Quest Diagnostics' Focus Diagnostics Business 5
8 different frozen tissues are mounted on positively charged glass slides...
... BioChain's monkey normal multiple tissue panels ... cellular localization of genes or proteins ... Tissues are mounted on positively charged ... are available in the identical format, ...
... T2-04 is an ultra-compact pump available in single ... and ideal for use in portable air and ... this pump works well in environments where DC ... compact size are critical., Offers ultra-compact size, ...
XA7 B6...
Biology Products: