PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Laminopathies: Key components in the disease mechanism identified

2013-05-07
(Press-News.org) 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. ### This study was done in collaboration between scientists from Cornell and Helsinki Universities, In Finland, the corresponding author is Maria Vartiainen from the Institute of Biotechnology, who is studying how the regulation of nuclear actin affects gene expression. In Finland, the study was funded by the Academy of Finland and Sigrid Juselius foundation.


ELSE PRESS RELEASES FROM THIS DATE:

High home ownership can seriously damage your labor market, new study suggests

2013-05-07
Government policies that boost the amount of home ownership in a country are likely to inflict severe damage on the labour market, new research from the University of Warwick suggests. Professor Andrew Oswald from the University of Warwick and Professor David Blanchflower from Dartmouth College examine a century of unemployment and home ownership data for the states of the USA from 1900 to 2010. Combining those numbers with modern data on millions of randomly sampled Americans, the researchers show there is a powerful link between the housing market and the later health ...

Chaos proves superior to order

2013-05-07
An international team of physicists, including researchers from the Universities of York and St. Andrews, has demonstrated that chaos can beat order - at least as far as light storage is concerned. In a collaboration led by the King Abdullah University of Science and Technology (KAUST), Saudi Arabia, the researchers deformed mirrors in order to disrupt the regular light path in an optical cavity and, surprisingly, the resulting chaotic light paths allowed more light to be stored than with ordered paths. The work has important applications for many branches of physics ...

Magnetic vortex antennas for wireless data transmission

2013-05-07
"So far, magnetic vortex states have been observed only in two dimensions; in other words: Within a plane," explains Sebastian Wintz, physicist at the Helmholtz-Zentrum Dresden-Rossendorf. These magnetic vortices typically occur in nanometer-scale magnetic disks. Wintz has now investigated three-dimensional magnetic layer systems together with his colleagues from HZDR and the Swiss Paul Scherrer Institute: The researchers stacked two magnetic disks at a time, which were separated by a thin non magnetic metal layer, on top of each other. Due to this special design, ...

Parents who suck on their infants' pacifiers may protect their children against developing allergy

2013-05-07
Swedish researchers at the Sahlgrenska Academy, University of Gothenburg, Sweden, report that a simple habit may give significant protection against allergy development, namely, the parental sucking on the baby's pacifier. Allergies are very common in industrialized countries. It has been suggested that exposure to harmless bacteria during infancy may be protective against the development of allergy. However, it has been difficult to pinpoint which bacteria a baby should be exposed to, and at what time and by which route this exposure should ideally occur. Swedish researchers ...

Period pain not made worse by copper IUD

2013-05-07
Previous scientific studies have suggested that women who use a copper IUD for contraception suffer from worse period pain, but a study at the Sahlgrenska Academy, University of Gothenburg, that followed 2,100 women over a 30-year period shows that this is not the case. In the study, 19-year-olds born in 1962, 1972 and 1982 were asked questions about their height, weight, pregnancies, children, period pain and contraception. The latest results, published in the leading journal Human Reproduction, reveal that women who use a copper IUD do not suffer from worse period ...

And the beat goes on...: The reliable heartbeat of hibernators

2013-05-07
To date, the mechanisms underlying the maintenance of cardiac function at low body temperatures are poorly understood. Now, scientists at the Research Institute of Wildlife Ecology at the University of Veterinary Medicine, Vienna, together with colleagues at the University of Groningen in the Netherlands, have found that certain omega-3 and omega-6 fatty acids regulate the cardiac function and hence hibernation. These fatty acids control the process of maintaining a regular heartbeat, achieving lower body temperatures during hibernation and thereby ensuring the hibernator's ...

Certain bladder-cancer patients may be at high risk of disease recurrence despite bladder removal

2013-05-07
DALLAS – May 7, 2013 – Patients with advanced bladder cancers that are surgically removed might need additional therapy to prevent recurrence in certain situations, a new UT Southwestern Medical Center study suggests. The five-year international study led by researchers at UT Southwestern validates the use of a marker panel to predict which patients are more likely to have a recurrence of cancer after bladder removal, thereby identifying those patients as good candidates for follow-up chemotherapy. The findings, published in the most recent edition of European Urology, ...

New mechanism converts natural gas to energy faster, captures CO2

2013-05-07
North Carolina State University researchers have identified a new mechanism to convert natural gas into energy up to 70 times faster, while effectively capturing the greenhouse gas carbon dioxide (CO2). "This could make power generation from natural gas both cleaner and more efficient," says Fanxing Li, co-author of a paper on the research and an assistant professor of chemical and biomolecular engineering at NC State. At issue is a process called chemical looping, in which a solid, oxygen-laden material – called an "oxygen carrier" – is put in contact with natural ...

Study: Using anticholinergics for as few as 60 days causes memory problems in older adults

2013-05-07
INDIANAPOLIS -- Research from the Regenstrief Institute, the Indiana University Center for Aging Research and Wishard-Eskenazi Health on medications commonly taken by older adults has found that drugs with strong anticholinergic effects cause cognitive impairment when taken continuously for as few as 60 days. A similar impact can be seen with 90 days of continuous use when taking multiple drugs with weak anticholinergic effect. The study of 3,690 older adults is among the first to explore how length of use of this group of drugs affects the brain. The study is available ...

The brain-gut connection: A link between depression and common hospital-acquired infection

2013-05-07
ANN ARBOR, Mich. — Adults with depression and who receive certain types of anti-depressants have an increased risk of developing Clostridium difficile, a costly and serious hospital-associated infection, according to a new University of Michigan Health System study. Older Americans who were widowed and those who lived alone were also more likely to develop C. difficile, a bacterium that causes a growing number of serious infections in U.S. hospitals and nursing homes and is responsible for more than 7,000 deaths a year in the country. Symptoms range from diarrhea to ...

LAST 30 PRESS RELEASES:

Discovery of two planets sheds new light on the formation of planetary systems

New West Health-Gallup survey finds incoming Trump administration faces high public skepticism over plans to lower healthcare costs

Reading signs: New method improves AI translation of sign language

Over 97 million US residents exposed to unregulated contaminants in their drinking water

New large-scale study suggests no link between common brain malignancy and hormone therapy

AI helps to identify subjective cognitive decline during the menopause transition

Machine learning assisted plasmonic absorbers

Healthy lifestyle changes shown to help low back pain

Waking up is not stressful, study finds

Texas A&M AgriLife Research aims for better control of widespread tomato spotted wilt virus

THE LANCET DIABETES & ENDOCRINOLOGY: Global Commission proposes major overhaul of obesity diagnosis, going beyond BMI to define when obesity is a disease.

Floating solar panels could support US energy goals

Long before the L.A. fires, America’s housing crisis displaced millions

Breaking barriers: Collaborative research studies binge eating disorders in older Hispanic women

UVA receives DURIP grant for cutting-edge ceramic research system

Gene editing extends lifespan in mouse model of prion disease

Putting a lid on excess cholesterol to halt bladder cancer cell growth

Genetic mutation linked to higher SARS-CoV-2 risk

UC Irvine, Columbia University researchers invent soft, bioelectronic sensor implant

Harnessing nature to defend soybean roots

Yes, college students gain holiday weight too—but in the form of muscle not fat

Beach guardians: How hidden microbes protect coastal waters in a changing climate

Rice researchers unlock new insights into tellurene, paving the way for next-gen electronics

New potential treatment for inherited blinding disease retinitis pigmentosa

Following a 2005 policy, episiotomy rates have reduced in France without an overall increase in anal sphincter injuries during labor, with more research needed to confirm the safest rate of episiotomi

Rats anticipate location of food-guarding robots when foraging

The American Association for Anatomy announces their Highest Distinctions of 2025

Diving deep into dopamine

Automatic speech recognition on par with humans in noisy conditions

PolyU researchers develop breakthrough method for self-stimulated ejection of freezing droplets, unlocking cost-effective applications in de-icing

[Press-News.org] Laminopathies: Key components in the disease mechanism identified