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MCB Lecture 9 – Mitchondria – Van Oost The mitochondrial DNA has a heavy strand and a light strand. What is the difference? o H-Strand: Coding strand except for the D-Loop o L-Strand: Codes for 1 mRNA and several tRNA’s Where is the origin of replication located in the H-Strand? o In the D-Loop How many genes does the Mitochondrial DNA code for? o 13 Protein Coding Genes What are the proteins used for that are coded by the Mitochondrial DNA? o Oxidative Phosphorylation in the ETC Where do the rest of the proteins come from that are necessary for the function of the mitochondria? o Nucleus How many mitochondrial genomes are there per cell? o 2-10 What is the name of the Mitochondrial DNA Polymerase? o POL-G (DNA Polymerase y) What is the name of the DNA Helicase? o TWINKLE What is Progessive External Ophtalmoplegia (PEO)? Include Mode of Inheritance. o Autosomal Dominant o Caused by deletions in mtDNA, leading to a mutation in DNA Polymerase y or mutations in TWINKLE o Symptoms: Bilateral Ptosis Muscle weakness, wasting Exercise Intolerance Answer the following questions regarding HIV: o What is the drug that is given to HIV patients? What is the medical name? AZT 3’ azido-2’3’ dideoxythymidine, Zidovudine o How does the drug work? It is phosphorylated so that it can compete with dTTP so that reverse transcriptase is terminated. o How does this affect DNA Polymerase? It does not affect DNA Polymerase δ in the nucleus. It inhibits DNA y in the mitochondria. o What is the symptom/side effect? Myopathy (muscle weakness) What is a difference in the post-transcriptional modification of mtDNA and Nuclear DNA? o The mtDNA is polyadenylated, but not capped. What is the first amino acid added during translation? o N-Formyl Methionine How many tRNAs are needed for mitochondrial protein synthesis? o 22 tRNAs (30+ for nuclear translation) Do mutations occur more often or less often than in nuclear DNA? What is the difference? o 10-fold faster in mtDNA than in Nuclear DNA How do you know that a pedigree is representing Mitochondrial Inheritance? o Men NEVER pass down the disease. What are the three major types of mutations in Mitochondrial DNA? o Rearrangements that generate deletions o Point mutations o Missense mutations When mutations happen in Mitochondrial DNA, what types of tissues are affected first? What do those tissues do as a result? o Tissues with high-energy demand are affected first. o They start producing lactic acid. What is Heteroplasmy? o A single cell can harbor some molecules that have a mutation and others that do not. The ratio of these determines if the individual presents the disease or not. What is Homoplasmy? o When all of the mtDNA is identical. Homoplasmic mtDNA that is diseased is usually fatal. What are three diseases caused by giant deletions in mtDNA? o PEO o Kearns-Sayre Syndrome (KSS) o Pearson Syndrome What is Kearns-Sayre Syndrome (KSS)? o mtDNA Deletion in muscle, not blood. o Causes cerebellar ataxia and heart block What is Pearson Syndrome? o mtDNA with muscle AND bone marrow involvement o Pancytopenia, Sideroblastic Anemia (all tissues have mtDNA with deletions) What are the two pathologies that are caused by mutations in tRNA genes? o MELAS o MERRF What is MELAS o Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes o Mutation in tRNA(Leu) o Always heteroplasmic What is MERRF? o Myoclonus Epilepsy Ragged Red Fibers o Mutation in tRNA(Lys) o Always heteroplasmic What is LHON? o Leber’s Heredity Optic Neuropathy o Missense mutation in Complex I (NADH Dehydrogenase) MAY BE HOMOPLASMIC What is NARP? o Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa o Mutation in ATPase 6 gene o Always heteroplasmic What is a maternally inherited form of NARP that is more severe than NARP? o Leigh Syndrome