Editing in humans small nucleolar rnas snornas the

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Unformatted text preview: ord, Brain, and Peripheral Tissues for Pediatric Disorders". Molecular Therapy 19 (11): 1971–1980. •  Stem cell therapy –  Offering protection to affected neurons through injection of specially prepared human stem cells in the spinal cord –  California Stem Cell, USA. Experimental stem cell therapy is also offered to SMA patients  ­ based on limited research and with unclear outcome  ­ in private clinics in Brazil, China, Russia and Ukraine. How can we increase genome complexity without increasing the number of genes •  Alternate splicing •  RNA editing Alternative Splicing : Many Proteins from One Gene alpha ­tropomyosin RNA Editing Changes in the nucleotide sequence of the RNA post ­transcriptionally RNA Editing Mechanisms & Enzymes 1.  A ­to ­I (Adenine to Ionosine) –  Adenosine deaminases (ADAR) 2.  C ­to ­U (deamination of cytidine to uridine –  APOBEC enzymes 3.  U ­insertion/deletion –  Terminal Uridinyl Transferase (TUTase) TUTase-mediated U insertion/deletion RNA Editing in Mammals ADAR ­mediated A ­to ­I Editing •  Hydrolytic deamination at C6 •  Most common form of RNA editing ADAR ­mediated A ­to ­I Editing ADAR ­mediated A ­to ­I Editing Lou Gehrig's Disease amyotrophic lateral sclerosis (ALS) •  •  •  •  •  •  Debilitating disease Rapidly progressive muscle weakness Muscular atrophy DifGiculty speaking (dysarthria) DifGiculty swallowing (dysphagia) DifGiculty in breathing •  RNA editing of GluR2 GluR2 –  Post ­transcriptional change •  Q/R site –  Located in the second membrane domain (M2) •  Editing event –  Glutamine (Q) codon is substituted by an arginine (R) codon •  AMPA receptors containing edited GluR2(R) –  Low Ca2+ conductance –  No neuronal death •  AMPA receptors containing unedited GluR2(Q) –  High Ca2+ ­permeable AMPA re...
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