User:David Ryskamp/Sandbox1: Difference between revisions
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In more complex eukaryotic organisms, PABP indirectly stimulates translation via [https://en.wikipedia.org/wiki/PAIP1 PAIP-1] (PABP interacting protein). A higher presence of PAIP-1 increases the rate of translation initiation, indicating another way to “close the loop.”¹ | In more complex eukaryotic organisms, PABP indirectly stimulates translation via [https://en.wikipedia.org/wiki/PAIP1 PAIP-1] (PABP interacting protein). A higher presence of PAIP-1 increases the rate of translation initiation, indicating another way to “close the loop.”¹ | ||
</StructureSection> | |||
=Disease and Medical Relevance= | ==Disease and Medical Relevance== | ||
==Oculopharyngeal Muscular Dystrophy== | ===Oculopharyngeal Muscular Dystrophy=== | ||
Oculopharyngeal muscular dystrophy, or [https://rarediseases.info.nih.gov/diseases/7245/oculopharyngeal-muscular-dystrophy OPMD], is an autosomal dominant late-onset disease. <ref name="Oculopharyngeal Muscular Dystrophy">“Oculopharyngeal Muscular Dystrophy.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-diseases/oculopharyngeal-muscular-dystrophy/.</ref> It’s characterized by the myopathy of the eyelids and the throat. The symptoms entail eye-drooping and difficulty swallowing. There are two types of OPMD: autosomal dominant and recessive, both originating from the mutation of the PABP nuclear 1 [https://en.wikipedia.org/wiki/PABPN1 (PABPN1)] gene located on the long arm of chromosome 14. <ref name="Oculopharyngeal Muscular Dystrophy">“Oculopharyngeal Muscular Dystrophy.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-diseases/oculopharyngeal-muscular-dystrophy/.</ref> This mutation results in an abnormally long polyalanine tract, 11-18 alanines, opposed to the normal 10. <ref name="Oculopharyngeal Muscular Dystrophy">“Oculopharyngeal Muscular Dystrophy.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-diseases/oculopharyngeal-muscular-dystrophy/.</ref> Patients with longer PABPN1 expansion (more alanines) are on average diagnosed at an earlier in life than patients with a shorter expansion; therefore, expansion size plays a role in OPMD severity and progression. <ref name="“Correlation between PABPN1 Genotype and Disease Severity in Oculopharyngeal Muscular Dystrophy"> Richard, Pascale, et al. “Correlation between PABPN1 Genotype and Disease Severity in Oculopharyngeal Muscular Dystrophy.” Neurology, vol. 88, no. 4, 2016, pp. 359–365., doi:10.1212/wnl.0000000000003554. </ref> | Oculopharyngeal muscular dystrophy, or [https://rarediseases.info.nih.gov/diseases/7245/oculopharyngeal-muscular-dystrophy OPMD], is an autosomal dominant late-onset disease. <ref name="Oculopharyngeal Muscular Dystrophy">“Oculopharyngeal Muscular Dystrophy.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-diseases/oculopharyngeal-muscular-dystrophy/.</ref> It’s characterized by the myopathy of the eyelids and the throat. The symptoms entail eye-drooping and difficulty swallowing. There are two types of OPMD: autosomal dominant and recessive, both originating from the mutation of the PABP nuclear 1 [https://en.wikipedia.org/wiki/PABPN1 (PABPN1)] gene located on the long arm of chromosome 14. <ref name="Oculopharyngeal Muscular Dystrophy">“Oculopharyngeal Muscular Dystrophy.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-diseases/oculopharyngeal-muscular-dystrophy/.</ref> This mutation results in an abnormally long polyalanine tract, 11-18 alanines, opposed to the normal 10. <ref name="Oculopharyngeal Muscular Dystrophy">“Oculopharyngeal Muscular Dystrophy.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-diseases/oculopharyngeal-muscular-dystrophy/.</ref> Patients with longer PABPN1 expansion (more alanines) are on average diagnosed at an earlier in life than patients with a shorter expansion; therefore, expansion size plays a role in OPMD severity and progression. <ref name="“Correlation between PABPN1 Genotype and Disease Severity in Oculopharyngeal Muscular Dystrophy"> Richard, Pascale, et al. “Correlation between PABPN1 Genotype and Disease Severity in Oculopharyngeal Muscular Dystrophy.” Neurology, vol. 88, no. 4, 2016, pp. 359–365., doi:10.1212/wnl.0000000000003554. </ref> | ||
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== References == | == References == | ||
<references/> | <references/> | ||
