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== ALS ==

Mutations to the SOD 1 protein have been linked to the development of familial amyotrophic lateral sclerosis (Lou Gehrig's Disease). <ref name="Al-Chalabi">Al-Chalabi A, Leigh PN (August 2000). "Recent advances in amyotrophic lateral sclerosis". Curr. Opin. Neurol. 13 (4): 397–405. PMID 10970056.</ref> These mutations cause a conformational change that leads to motor neuron death through toxic radical build up, promotion of apoptosis, aggregate formation of misfolded proteins, or over stimulation of the cells.<ref name="Sod1">SOD 1. Genetics Home Reference. U.S. National Library of Medicine; 2010</ref> In the United States, one of the most common SOD 1 protein mutations is the A4V mutation, where a point mutation causes the alanine at the 4th amino acid position to change to a valine <ref name="Rosen">Rosen DR, Bowling AC, Patterson D, Usdin TB, Sapp P, Mezey E, McKenna-Yasek D, O'Regan J, Rahmani Z, Ferrante RJ (June 1994). "A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis". Hum. Mol. Genet. 3 (6): 981–7. PMID 7951249</ref>; however, over 100 different mutations have been found in association with the onset of ALS.

Mutations to the SOD 1 protein have been linked to the development of familial amyotrophic lateral sclerosis (Lou Gehrig's Disease). <ref name="Al-Chalabi">Al-Chalabi A, Leigh PN (August 2000). "Recent advances in amyotrophic lateral sclerosis". Curr. Opin. Neurol. 13 (4): 397–405. PMID 10970056.</ref> These mutations cause a conformational change that leads to motor neuron death through toxic radical build up, promotion of apoptosis, aggregate formation of misfolded proteins, or over stimulation of the cells.<ref name="Sod1">SOD 1. Genetics Home Reference. U.S. National Library of Medicine; 2010</ref> In the United States, one of the most common SOD 1 protein mutations is the A4V mutation, where a point mutation causes the alanine at the 4th amino acid position to change to a valine; <ref name="Rosen">Rosen DR, Bowling AC, Patterson D, Usdin TB, Sapp P, Mezey E, McKenna-Yasek D, O'Regan J, Rahmani Z, Ferrante RJ (June 1994). "A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis". Hum. Mol. Genet. 3 (6): 981–7. PMID 7951249</ref> however, over 100 different mutations have been found in association with the onset of ALS.

== References ==

Sandbox Reserved 164: Difference between revisions

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 == ALS ==
-Mutations to the SOD 1 protein have been linked to the development of familial amyotrophic lateral sclerosis (Lou Gehrig's Disease). <ref name="Al-Chalabi">Al-Chalabi A, Leigh PN (August 2000). "Recent advances in amyotrophic lateral sclerosis". Curr. Opin. Neurol. 13 (4): 397–405. PMID 10970056.</ref>   These mutations cause a conformational change that leads to motor neuron death through toxic radical build up, promotion of apoptosis, aggregate formation of misfolded proteins, or over stimulation of the cells.<ref name="Sod1">SOD 1.  Genetics Home Reference.  U.S. National Library of Medicine; 2010</ref> In the United States, one of the most common SOD 1 protein mutations is the A4V mutation, where a point mutation causes the alanine at the 4th amino acid position to change to a valine <ref name="Rosen">Rosen DR, Bowling AC, Patterson D, Usdin TB, Sapp P, Mezey E, McKenna-Yasek D, O'Regan J, Rahmani Z, Ferrante RJ (June 1994). "A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis". Hum. Mol. Genet. 3 (6): 981–7. PMID 7951249</ref>; however, over 100 different mutations have been found in association with the onset of ALS.
+Mutations to the SOD 1 protein have been linked to the development of familial amyotrophic lateral sclerosis (Lou Gehrig's Disease). <ref name="Al-Chalabi">Al-Chalabi A, Leigh PN (August 2000). "Recent advances in amyotrophic lateral sclerosis". Curr. Opin. Neurol. 13 (4): 397–405. PMID 10970056.</ref>   These mutations cause a conformational change that leads to motor neuron death through toxic radical build up, promotion of apoptosis, aggregate formation of misfolded proteins, or over stimulation of the cells.<ref name="Sod1">SOD 1.  Genetics Home Reference.  U.S. National Library of Medicine; 2010</ref> In the United States, one of the most common SOD 1 protein mutations is the A4V mutation, where a point mutation causes the alanine at the 4th amino acid position to change to a valine; <ref name="Rosen">Rosen DR, Bowling AC, Patterson D, Usdin TB, Sapp P, Mezey E, McKenna-Yasek D, O'Regan J, Rahmani Z, Ferrante RJ (June 1994). "A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis". Hum. Mol. Genet. 3 (6): 981–7. PMID 7951249</ref> however, over 100 different mutations have been found in association with the onset of ALS.
 == References ==
 <references />