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| mitosis |
 Posted: Sun May 04, 2008 9:37 pm Post subject: Can Someone please explain this in simple english!! |
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Forum Freshman
Joined: 04 May 2008
Posts: 3
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Hi im doing a poster assignment and the topic i've been given a journal article titled "A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type 1) spinal muscular atrophy"
firstly, i don't know what that means and secondly can someone please explain the abstract to me...
ABSTRACT:
5q spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans and the leading genetic cause of infantile death. Patients lack a functional survival of motor neurons (SMN1) gene, but carry one or more copies of the highly homologous SMN2 gene. A homozygous knockout of the single murine Smn gene is embryonic lethal. Here we report that in the absence of the SMN2 gene, a mutant SMN A2G transgene is unable to rescue the embryonic lethality. In its presence, the A2G transgene delays the onset of motor neuron loss, resulting in mice with mild SMA. We suggest that only in the presence of low levels of full-length SMN is the A2G transgene able to form partially functional higher order SMN complexes essential for its functions. Mild SMA mice exhibit motor neuron degeneration, muscle atrophy, and abnormal EMGs. Animals homozygous for the mutant transgene are less severely affected than heterozygotes. This demonstrates the importance of SMN levels in SMA even if the protein is expressed from a mutant allele. Our mild SMA mice will be useful in (a) determining the effect of missense mutations in vivo and in motor neurons and (b) testing potential therapies in SMA.
thanks guys! |
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| i_feel_tiredsleepy |
| Posted: Sun May 04, 2008 10:39 pm Post subject: |
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Forum Senior
Joined: 21 Mar 2008
Posts: 376
Location: Montreal
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They are saying that the disease SMA is caused by a recessive mutation in the SMN gene. There is also an SMN2 gene that has lots of copies. They take a mouse that doesn't have the SMN gene, and generate two groups of transgenic mice that have the mutant SMN A2G gene.
1) In one group they took a mouse that didn't have any SMN2 or SMN and gave it the SMN A2G gene, and they died.
2) In this group they had the SMN2, the SMN A2G was able to partially rescue the mice and they had a less severe form of SMA.
This showed that there is something about the difference between the mutant A2G and the wild type (normal) SMN that causes the lethality. They suggest it is the length of the gene.
That is about as much as I can simplify it.
Edit: Now I suggest you think about how being able to generate a mouse that has a less lethal form of a disease is useful to study.
Edit2: If you're a high school student your teacher is an ass for giving you something beyond your education level. |
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| mitosis |
| Posted: Tue May 06, 2008 12:10 am Post subject: |
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Forum Freshman
Joined: 04 May 2008
Posts: 3
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lol thanks alot that really helps 
I'm a first year undergrad student at uni, but this is still way beyond my education level!! i can make sense of some of it but the rest is complete jibberish. |
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| spuriousmonkey |
| Posted: Tue May 06, 2008 1:42 am Post subject: |
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Forum Masters Degree
Joined: 12 May 2005
Posts: 556
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that is indeed an extremely boring article.
I wouldn't even want to read it.
_________________
“A scientific man ought to have no wishes, no affections, - a mere heart of stone.” |
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| mitosis |
| Posted: Tue May 06, 2008 6:47 pm Post subject: |
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Forum Freshman
Joined: 04 May 2008
Posts: 3
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i looked for a more interesting one but they're all the same, or worse!
... would generating a mouse with a less lethal form of SMA be useful because it would be easier to find a cure for this from than the more complex form? then once that is found it can be used as the basis for further study into the more lethal form of SMA? |
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