Friday, May 4, 2012

New Insight Into Fatal Spinal Disease

New Insight Into Fatal Spinal Disease
Webpage URL: http://www.sciencedaily.com/releases/2011/09/110926151739.htm
Website URL: http://www.sciencedaily.com/
Author's Name Unavailable
Date of Publication: September 26, 2011

Summary
          This article from Science Daily entitled "New Insight Into Fatal Spinal Disease" is about a study conducted by researchers from the University of Missouri that could lead to more insight into spinal muscular atrophy (SMA), a fatal skeletal muscle disease in humans. In the study, the researchers identified a breakdown in communication between motor neurons and muscles in mice that expressed similar symptoms to those of SMA. This discovery could potentially provide more knowledge about SMA in humans. Michael Garcia, a biological sciences associate professor at the College of Arts and Science and the Bond Life Sciences Center describes this discovery in further detail. He says, "In this study, we found that the delivery of 'the words' a nerve uses to communicate with muscles was disrupted before they arrived at the nerve ending." The article reveals the connection to SMA by stating: "SMA is caused by a protein deficiency present in all cells, including motor neurons." This protein deficiency in the motor neurons could be the cause of a possible communication breakdown between motor neurons and muscles in SMA patients. This makes perfect sense, because as SMA worsens, the patient slowly loses his or her ability to move skeletal muscles, which move because of the signals of motor neurons. Garcia also states: "By learning where the (communication) system breaks down, perhaps we can target treatments that prevent the breakdown in the system." This discovery will hopefully lead to more knowledge about the cause of SMA and get scientists and researchers on the right path towards finding an effective treatment or cure for SMA, which is currently unavailable.

Curriculum Connection
           This article is connected to the curriculum this term because it involves processes of the nervous system. Students learned in class that in order for a muscle to make a movement, it first needs to receive a nerve signal from a motor neuron. The article describes how a communication breakdown between motor neurons and muscles in mice with SMA-like symptoms could be present in human SMA patients too, possibly caused by a known protein deficiency in the motor neurons of SMA patients. As SMA worsens, patients eventually lose their ability to move their skeletal muscles, as stated in the article summary. The fact that this disease might be caused by a communication breakdown between motor neurons and muscles shows that muscles are controlled by signals from motor neurons, and that without the signals from the motor neurons, the muscles can't do a thing.             






4 comments:

  1. Do you know if SMA can be passed on to an effected person's offspring?

    ReplyDelete
    Replies
    1. Yes. There are several different types of SMA, and all of them are genetically inherited. Some of the different types also have different modes of inheritance. Types I, II, III, IV, and distal spinal muscular atrophy are caused by a autosomal recessive allele. Finkel type SMA is autosomal dominant. X - linked infantile spinal muscular dystrophy is obviously x - linked.

      http://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy

      Barry Huang

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  2. What causes the protein deficiency and how can it be prevented?

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    Replies
    1. The protein deficiency is connected to the genetic aquisition of the disease. SMA is a genetic disease, and the deficiency of the protein SMN (the protein which causes SMA), which stands for survival motor neuron protein, is caused by a mutation or deletion of the gene which codes for the production of SMN protein, the SMN1 gene.

      http://www.smafoundation.org/about-sma/faq/#FAQ11
      http://ghr.nlm.nih.gov/gene/SMN1

      Since SMA is a genetic disease, there is no way to prevent it. However, some areas of research for an effective treatment or cure for SMA, which is currently unavailable, are gene therapy and developing a drug to increase protein production from the SMN2 gene, which is basically a partially functioning "backup gene" to SMN1 that also codes for production of small amounts of SMN protein.

      http://www.smafoundation.org/about-sma/faq/#FAQ11

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