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

Spasticity gene finding provides clues to causes of nerve cell degeneration

2012-01-09
(Press-News.org) The discovery of a gene that causes a form of hereditary spastic paraplegia (HSP) may provide scientists with an important insight into what causes axons, the stems of our nerve cells, to degenerate in conditions such as multiple sclerosis.

In the Journal of Clinical Investigation today, an international team of scientists led by Dr Evan Reid at the University of Cambridge, and Dr Stephan Zuchner from the University of Miami, report that mutations in the gene known as 'reticulon 2' on chromosome 19 cause a form of HSP, a condition characterised by progressive stiffness and contraction (spasticity) of the legs, caused by selective and specific degeneration of axons

The team identified three mutations in the reticulon 2 gene as causing a type of HSP – in one case, this mutation included an entire deletion of the gene. In addition, the researchers showed that reticulon 2 interacts with another gene, spastin. Mutations in this latter gene cause the most common form of hereditary spastic paraplegia.

Reticulon 2 provides the genetic code for a reticulon protein that is a member of a family of proteins recently shown to play a key role in shaping the endoplasmic reticulum. The endoplasmic reticulum is a network of interconnected sheets and tubules that extends throughout the cytoplasm in nearly all cells. It has a number of functions, including protein synthesis, calcium signalling and regulation of other components of the cell. Recent data suggest that the sheets are involved in protein synthesis, whereas the tubules are specialised to carry out the other functions.

This new study provides the most direct evidence to date that defects in how the endoplasmic reticulum is shaped and formed could underlie axon degeneration. When axons degenerate, signals are unable to pass through the nerve cells, leading to a breakdown of communication within the central nervous system. This is common in degenerative diseases of the nervous system, such as multiple sclerosis.

"Our work highlights important new disease mechanisms, which may provide a platform for us to study how axons are damaged in devastating illnesses such as HSP, and perhaps even in multiple sclerosis, which in some cases is very similar to HSP," explains Dr Reid, a Wellcome Trust Senior Research Fellow in Clinical Science. "But we must not forget how this work may immediately directly benefit families affected by hereditary spastic paraplegia, for whom the discovery now opens up the possibility of genetic counselling and testing."

INFORMATION:

END



ELSE PRESS RELEASES FROM THIS DATE:

SmartCEO Honors E. Davon Kelly and NOVAD Management Consulting with the Future 50 Award

SmartCEO Honors E. Davon Kelly and NOVAD Management Consulting with the Future 50 Award
2012-01-09
Davon Kelly, CEO of NOVAD Management Consulting will be honored on January 26, 2012 when Washington's SmartCEO magazine honors its 'Future 50 Award' recipients. The SmartCEO/Clifton Gunderson Future 50 Award recognizes 50 area companies based on revenue and employee growth over a three-year period. This year's Future 50 companies boast $11.7 billion in collective revenues and manage more than 30,000 employees in the Greater Washington area. NOVAD, founded in 2003, has rapidly grown to 15 full-time employees, augmenting its staff with 15 independent contractors. Since ...

Aria Diagnostics announces publication of first peer-reviewed data for new noninvasive prenatal test

Aria Diagnostics announces publication of first peer-reviewed data for new noninvasive prenatal test
2012-01-09
San Jose, Calif., Jan. 9, 2012 – Aria Diagnostics (formerly Tandem Diagnostics), a molecular diagnostics company, today announced publication of data supporting a directed, non-invasive approach to cell-free DNA (cfDNA) analysis in maternal blood for evaluation of two common fetal trisomies linked to genetic disorders. The results, assessing the detection of Trisomy 21 (associated with Down syndrome) and Trisomy 18 (associated with Edwards syndrome), were published online at http://onlinelibrary.wiley.com/doi/10.1002/pd.2922/full. "Our ability to identify pregnancies ...

Wildlife Conservation Society announces new snake species

2012-01-09
NEW YORK (DATE) -- The Wildlife Conservation Society (WCS) announced the discovery of a spectacularly colored snake from a remote area of Tanzania in East Africa. The striking black-and-yellow snake is called Matilda's horned viper. It measures 2.1 feet (60 centimeters) and has horn-like scales above its eyes. The discovery is described in the December issue of Zootaxa. Authors of the study include: Michele Menegon of Museo delle Scienze of Trento, Italy; Tim Davenport of the Wildlife Conservation Society; and Kim Howell of the University of Dar es Salaam. The ...

Study reveals enzyme function, could help find muscular dystrophy therapies

2012-01-09
Researchers at the University of Iowa have worked out the exact function of an enzyme that is critical for normal muscle structure and is involved in several muscular dystrophies. The findings, which were published Jan. 6 in the journal Science, could be used to develop rapid, large-scale testing of potential muscular dystrophy therapies. The enzyme, called LARGE, adds a critical sugar chain onto an important membrane protein called dystroglycan. This sugar chain acts like a glue allowing dystroglycan to attach to other proteins and by doing so, reinforce cell membranes ...

Theory explains how new material could improve electronic shelf life

2012-01-09
Research by UT Dallas engineers could lead to more-efficient cooling of electronics, producing quieter and longer-lasting computers, and cellphones and other devices. Much of modern technology is based on silicon's use as a semiconductor material, but research recently published in the journal Nature Materials shows that graphene conducts heat about 20 times faster than silicon. "Heat is generated every time a device computes," said "Dr. Kyeongjae "KJ" Cho, associate professor of materials science and engineering and physics at UT Dallas and one of the paper's authors. ...

MU researchers find unique protein organization in arteries associated with cardiovascular disease

MU researchers find unique protein organization in arteries associated with cardiovascular disease
2012-01-09
VIDEO: The following movies show sequential stacks of images starting on the outer wall of each small artery and progressing into the lumen of the blood vessel. They are followed by... Click here for more information. COLUMBIA, Mo. – Human arteries – some smaller than a strand of hair – stiffen as a person ages. This stiffening is a factor in cardiovascular disease, the leading cause of death in the United States, because it contributes to the circulatory complications in ...

Jimmie Lee, the Jersey Outlaw, Explodes into the Poker World!

Jimmie Lee, the Jersey Outlaw, Explodes into the Poker World!
2012-01-09
The bad boy of country rock, Jimmie Lee has exploded into the poker world this year, armed with his two hit singles for poker, I'm All In and Hit the River Running. On the heels of his most recent CD release, Kid Vegas, Jimmie is currently touring with venues throughout the USA and making big appearances at celebrity and charity poker tournaments now! And The Jersey Outlaw has just raised up the stakes, with the big photo shoot with The Prestigious Models from NYC, at Trump Taj Mahal Casino in Atlantic City!! This big promo event's the catalyst for Jimmies big road tour ...

Simple Energy Works Designs and Installs a 33.8kW PV Solar Power System for Action Heating and Cooling in Crossville, Tennessee

Simple Energy Works Designs and Installs a 33.8kW PV Solar Power System for Action Heating and Cooling in Crossville, Tennessee
2012-01-09
Jerry Wood, owner and operator of Action Heating and Cooling in Crossville, Tennessee, decided to become as energy efficient as possible. Wood decided to install a Tennessee photovoltaic solar system on their warehouse that will offset over 50% of their annual electrical usage. He contracted Simple Energy Works (www.SimpleEnergyWorks.com), a Tennessee solar company, to design and install the 33.8kW PV solar system, which features Schott 230 modules and Enphase microinverters. The PV system is the second largest system in Cumberland County, Tennessee, and it will produce ...

Ensil Technical Services, Inc., Lewiston, New York, Awarded Major Military Repair Contract from United States Coast Guard

2012-01-09
Ensil's solid performance for repair, rework and refurbishment of critical equipment for US Coast Guard was superior to other competitive proposals submitted by high pedigreed organizations including the Original Equipment Manufacturers (OEMs). Ensil provides services from two locations, a facility in Lewiston, New York, and a facility in Markham, Ontario, Canada. The facility in Lewiston, New York performs logistics, sales, testing, inspection, design engineering, repair, and serves as the Department of Defense's inspection point. The facility in Markham, Ontario performs ...

Paradigm Precision Expands its Mexico Machining Capacity

2012-01-09
Paradigm Precision is in the process of expanding its precision machining capacity in Mexico. Paradigm Precision currently operates in 32,936 square feet of industrial space at the Roca Fuerte Industrial Park in Guaymas, Sonora, Mexico, under the Tucson, Arizona- based Offshore Group's Mexico Shelter Plan. Paradigm will soon be doubling the square footage that it occupies in the industrial park in order conduct its manufacturing operations within 65,872 square feet of new construction. The company currently employs 83 individuals at its plant. This number will increase ...

LAST 30 PRESS RELEASES:

Metabolically active visceral fat linked to aggressive endometrial cancer, new study reveals

Scientists glimpse how enzymes “dance” while they work, and why that’s important

California partnership aided COVID-19 response and health equity, report finds

University of Oklahoma secures $19.9 million for revolutionary radar technology

Study finds restoring order to dividing cancer cells may prevent metastasis

High-accuracy tumor detection with label-free microscopy and neural networks

Wayne State research reveals fetuses exposed to Zika virus have long-term immune challenges

Researchers deconstruct chikungunya outbreaks to improve prediction and vaccine development

Study finds one-year change on CT scans linked to future outcomes in fibrotic lung disease

Discovery of a novel intracellular trafficking pathway in plant cells

New tool helps forecast volcano slope collapses and tsunamis

Molecular coating cleans up noisy quantum light

From Parkinson's to rare diseases, discovered a key switch for cellular health

Tiny sugars in the brain disrupt emotional circuits, fueling depression

Mini-organs reveal how the cervix defends itself

Africa, climate, and food: How to feed a continent without increasing its carbon footprint

Researchers demonstrates substrate design principles for scalable superconducting quantum materials

How better software choices could cut US health care costs

Concussion history in NCAA athletes yields mixed health outcomes

Counting plastic reveals hidden waste and sparks action

Warming oceans may pose a serious threat to American lobsters

Deaths from drug-induced unintentional injury rise across the US

In car crashes with pedestrians, age and zip code may predict extent of traumatic injuries

AI optimizes evacuation, diagnosis, and treatment of wounded soldiers in Ukraine

Mastectomy linked to worsened sexual health, body image after surgery

Drop in credit score after cancer diagnosis linked to increased mortality, study shows

Use of weight loss drugs before bariatric surgery has soared in recent years, study finds

EMS call times in rural areas take at least 20 minutes longer than national average

Rectal bleeding in young adults linked to 8.5 times higher risk of colorectal cancer

Hospital closures disproportionately affect socioeconomically disadvantaged communities

[Press-News.org] Spasticity gene finding provides clues to causes of nerve cell degeneration