Spinal Muscular Atrophy SMN1 Billy Baader - Genetics 677 QuickTime™ and a TIFF (Uncompressed) decompressor are needed to see this picture. QuickTime™ and a TIFF (Uncompressed) decompresso are needed to see this pictur dline Plus (2009) Spinal Muscular Atrophy etrieved Feb 3, 2009 from: http://www.nlm.nih.gov/medlineplus/spinalmuscularatrophy.html Gubitz et al. The SMN Complex. Experimental Cell Research(2004) 296: 51-56
16
Embed
Spinal Muscular Atrophy SMN1 Billy Baader - Genetics 677 Medline Plus (2009) Spinal Muscular Atrophy retrieved Feb 3, 2009 from: .
This document is posted to help you gain knowledge. Please leave a comment to let me know what you think about it! Share it to your friends and learn new things together.
Transcript
Spinal Muscular AtrophySMN1
Billy Baader - Genetics 677
QuickTime™ and aTIFF (Uncompressed) decompressor
are needed to see this picture.QuickTime™ and aTIFF (Uncompressed) decompressor
are needed to see this picture.
Medline Plus (2009) Spinal Muscular Atrophy retrieved Feb 3, 2009 from: http://www.nlm.nih.gov/medlineplus/spinalmuscularatrophy.html
Gubitz et al. The SMN Complex. Experimental Cell Research(2004) 296: 51-56
What is SMA?
• Neuromuscular Disease• Inactivated Muscle Communication
Weak and eventually atrophied muscles
• Death is inevitable
• Characterized by time of onset and severity
QuickTime™ and aTIFF (Uncompressed) decompressor
are needed to see this picture.
Severity and Statistics
Type I Acute - <6 months after birth
Type II Intermediate - age 6 - 18 months
Type III Mild - 18 months - early adulthood
Type IV Adult Onset - adulthood
1 in 35-40 Americans are carriers
1 in 10,000 infants effected
Most deadly recessive genetic disease among infants
HomologsHomologs1. SMN1, Pan troglodytes (Chimpanzee)survival of motor neuron 1, telomeric
2. SMN, Canis lupus familiaris (Dog)survival motor neuron
3. SMN, Bos taurus (Cow)survival motor neuron
4. Smn1, Mus musculus (Mouse)survival motor neuron 1
5. Smn1, Rattus norvegicus (Rat)survival motor neuron 1
6. SMN, Gallus gallus (Rooster)survival motor neuron
7. smn1, Danio rerio (Zebrafish)survival motor neuron 1
Percent Identity:DNA: 99.4Protein:100
DNA: 90.8Protein: 89.4
DNA: 88.2Protein: 85.2
DNA: 83.5Protein: 83.3
DNA: 82.1Protein: 81.2
DNA: 67.1Protein: 64.8
DNA: 61.2Protein: 59.0
Protein Domain: Tudor
QuickTime™ and aTIFF (Uncompressed) decompressor
are needed to see this picture.
Retrieved from: Huang, Y. et al. (2006) Science. 312(5774): 748-51. PDB: 2GFA
Protein-protein Interactions
RNA metabolism
Not fullyunderstood
Mystery of SMA
Why low levels of SMN protein in the cells of SMA patients lead to the specific loss of motor neurons remains a central question in this field.
SMN may be involved in the transport of specific mRNA molecules in motor axon.
However, whether the clinical symptoms of SMA are caused by deficiencies in functions of SMN that are specific to the motor neuron or common to all cells but at higher demand in this cell type must still be resolved.
Future Possibilities
Yeast Two Hybrid– Neural vs. other tissues
Microarrays of gene expression in different tissues
Mice should be good model organisms to research SMA
1. Spinal Muscular Atrophy Foundation (2009) About SMA retrieved Feb 3, 2009 from: http://www.smafoundation.org/index.php?option=com_faq&Itemid=32&Itemid=32
2.Medline Plus (2009) Spinal Muscular Atrophy retrieved Feb 3, 2009 from: http://www.nlm.nih.gov/medlineplus/spinalmuscularatrophy.html