Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Rare window on spinal muscular atrophy genetics

08.04.2009
Caused by a mutation of the SMN gene, spinal muscular atrophy (SMA) is an infantile and juvenile neurodegenerative disorder where motor neuron loss causes progressive paralysis.

A new study published in the open access journal BMC Medicine details the first research focused on human muscle tissue atrophied due to a genetic condition, and sheds light on two distinct mechanisms at work in different forms of SMA.

A research team from Italy, led by Gerolamo Lanfranchi, analyzed muscle biopsies and genomic DNA from peripheral blood of four SMA I and five SMA III patients from the Neuromuscular Bank organised by Corrado Angelini at the University of Padova, to investigate which other muscle genes, other than the SMN defect, played a role in atrophy. They used microarray and quantitative real-time PCR to study at transcriptional level the effects of a defective SMN gene in skeletal muscles affected by the two forms of SMA: the most severe, type I (infantile), and the milder type III (juvenile).

SMA type I is also known as severe infantile SMA or Werdnig-Hoffmann disease. Manifesting rapidly in infants, babies diagnosed with type I SMA do not generally live past one year of age. SMA type III represents a milder form of the disorder. It has a later onset and affected patients may be able to walk but later lose this ability.

The two forms of SMA gave distinct expression signatures. The SMA III muscle transcriptome is close to normal, whereas in SMA I gene expression is significantly altered. Genes implicated in signal transduction were up-regulated in SMA III whereas those involved in energy metabolism and muscle contraction were consistently down-regulated in SMA I.

"Our work indicates that SMA I and III muscles are in different phases: the 'prolonged' atrophic condition typical of the SMA I muscle and the coexistence of atrophy and hypertrophy in SMA III muscle," says Lanfranchi.

Previous studies have investigated transcriptional changes in mouse or rat muscle atrophied due to physiopathological conditions, but this is the first to use human tissue affected by a genetic atrophic condition.

1. Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy
Caterina Millino, Marina Fanin, Andrea Vettori, Paolo Laveder, Maria Luisa Mostacciuolo, Corrado Angelini and Gerolamo Lanfranchi

BMC Medicine (in press)

Article citation and URL available on request at press@biomedcentral.com on the day of publication.

2. BMC Medicine publishes original research articles, technical advances and study protocols in any area of medical science or clinical practice. To be appropriate for BMC Medicine, articles need to be of special importance and broad interest. BMC Medicine (ISSN 1741-7015) is indexed/tracked/covered by PubMed, MEDLINE, BIOSIS, CAS, Scopus, EMBASE, Thomson Reuters (ISI) and Google Scholar.

3. BioMed Central (http://www.biomedcentral.com/) is an STM (Science, Technology and Medicine) publisher which has pioneered the open access publishing model. All peer-reviewed research articles published by BioMed Central are made immediately and freely accessible online, and are licensed to allow redistribution and reuse. BioMed Central is part of Springer Science+Business Media, a leading global publisher in the STM sector.

Charlotte Webber | EurekAlert!
Further information:
http://www.biomedcentral.com
http://www.biomedcentral.com/bmcmed/

More articles from Life Sciences:

nachricht Opening the cavity floodgates
23.01.2018 | Albert-Ludwigs-Universität Freiburg im Breisgau

nachricht Incentive to Move
23.01.2018 | Albert-Ludwigs-Universität Freiburg im Breisgau

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Optical Nanoscope Allows Imaging of Quantum Dots

Physicists have developed a technique based on optical microscopy that can be used to create images of atoms on the nanoscale. In particular, the new method allows the imaging of quantum dots in a semiconductor chip. Together with colleagues from the University of Bochum, scientists from the University of Basel’s Department of Physics and the Swiss Nanoscience Institute reported the findings in the journal Nature Photonics.

Microscopes allow us to see structures that are otherwise invisible to the human eye. However, conventional optical microscopes cannot be used to image...

Im Focus: Artificial agent designs quantum experiments

On the way to an intelligent laboratory, physicists from Innsbruck and Vienna present an artificial agent that autonomously designs quantum experiments. In initial experiments, the system has independently (re)discovered experimental techniques that are nowadays standard in modern quantum optical laboratories. This shows how machines could play a more creative role in research in the future.

We carry smartphones in our pockets, the streets are dotted with semi-autonomous cars, but in the research laboratory experiments are still being designed by...

Im Focus: Scientists decipher key principle behind reaction of metalloenzymes

So-called pre-distorted states accelerate photochemical reactions too

What enables electrons to be transferred swiftly, for example during photosynthesis? An interdisciplinary team of researchers has worked out the details of how...

Im Focus: The first precise measurement of a single molecule's effective charge

For the first time, scientists have precisely measured the effective electrical charge of a single molecule in solution. This fundamental insight of an SNSF Professor could also pave the way for future medical diagnostics.

Electrical charge is one of the key properties that allows molecules to interact. Life itself depends on this phenomenon: many biological processes involve...

Im Focus: Paradigm shift in Paris: Encouraging an holistic view of laser machining

At the JEC World Composite Show in Paris in March 2018, the Fraunhofer Institute for Laser Technology ILT will be focusing on the latest trends and innovations in laser machining of composites. Among other things, researchers at the booth shared with the Aachen Center for Integrative Lightweight Production (AZL) will demonstrate how lasers can be used for joining, structuring, cutting and drilling composite materials.

No other industry has attracted as much public attention to composite materials as the automotive industry, which along with the aerospace industry is a driver...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

10th International Symposium: “Advanced Battery Power – Kraftwerk Batterie” Münster, 10-11 April 2018

08.01.2018 | Event News

See, understand and experience the work of the future

11.12.2017 | Event News

Innovative strategies to tackle parasitic worms

08.12.2017 | Event News

 
Latest News

Researchers reveal how microbes cope in phosphorus-deficient tropical soil

23.01.2018 | Earth Sciences

Opening the cavity floodgates

23.01.2018 | Life Sciences

Siberian scientists suggested a new method for synthesizing a promising magnetic material

23.01.2018 | Materials Sciences

VideoLinks Science & Research
Overview of more VideoLinks >>>