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 Molecular libraries for organic light-emitting diodes
24.04.2017 | Goethe-Universität Frankfurt am Main

nachricht Fine organic particles in the atmosphere are more often solid glass beads than liquid oil droplets
21.04.2017 | Max-Planck-Institut für Chemie

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Deep inside Galaxy M87

The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.

Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...

Im Focus: A Quantum Low Pass for Photons

Physicists in Garching observe novel quantum effect that limits the number of emitted photons.

The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...

Im Focus: Microprocessors based on a layer of just three atoms

Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.

Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...

Im Focus: Quantum-physical Model System

Computer-assisted methods aid Heidelberg physicists in reproducing experiment with ultracold atoms

Two researchers at Heidelberg University have developed a model system that enables a better understanding of the processes in a quantum-physical experiment...

Im Focus: Glacier bacteria’s contribution to carbon cycling

Glaciers might seem rather inhospitable environments. However, they are home to a diverse and vibrant microbial community. It’s becoming increasingly clear that they play a bigger role in the carbon cycle than previously thought.

A new study, now published in the journal Nature Geoscience, shows how microbial communities in melting glaciers contribute to the Earth’s carbon cycle, a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Expert meeting “Health Business Connect” will connect international medical technology companies

20.04.2017 | Event News

Wenn der Computer das Gehirn austrickst

18.04.2017 | Event News

7th International Conference on Crystalline Silicon Photovoltaics in Freiburg on April 3-5, 2017

03.04.2017 | Event News

 
Latest News

Fraunhofer HHI with latest VR technologies at NAB in Las Vegas

24.04.2017 | Trade Fair News

New quantum liquid crystals may play role in future of computers

21.04.2017 | Physics and Astronomy

A promising target for kidney fibrosis

21.04.2017 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>