Science Quiz / Clinical Correlations

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Can you name the Clinical Correlations?

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Patients with type I diabetes need Insulin to recruit this transporter.
Defect in absorption of neutral amino acids. Leads to pellagra. Treat with Niacin.
Increased purine breakdown or decreased excretion leads to increase of uric acid in blood.
Gene dosage effects of PMP22 caused by improper replication resulting in deletion/duplication of PMP22 gene.
Used in treatment of leukemia. Inhibits conversion of IMP → AMP/GMP. Use with allopurinol to increase effectiveness.
Used to treat Lesch-Nyham or Kelly-Seegmiller syndrome.
stops elongation by intercalating with DNA and halting RNA synthesis
Deficiency in this enzyme leads to hyperuricemia and increased secretion of xanthine & hypoxanthine.
Decreased renal absorption of basic amino acids and cystine. Characterized by increased basic amino acids in the blood. Also Kidney stones are formed. Treatment is a renal transpla
Disease that result from mutant laminas
Used in treatment of cancer. Is a CI of dihydrofolate reductase.
Deficiency in this leads to SCID due to inhibited synthesis of DNA
One of the causes of this disease is homologous recombination.
Deficiency in this leads to accumulation of 2,8-dihydroxyadenine
Mutation in this transporter causes Type 2 diabetes.
Binds to beta subunit of RNA polymerase and cuts transcription short after the second nucleotide is added.
Misfolded proteins form amyloids which leads to this disease
Characterized by inability to digest lactose
Ingestion of this compound can cause death. Is metabolized to produce oxalic acid. Treat with ethyl alcohol.
Chloride cannot be excreted from cells. Without Cl secretion, a thick mucous forms in the airway epithelia.
Attacks host cell RNA and instead favors translation of viral mRNA.
These crystals form in the joints and cause painful arthritis as a result of Gout.
Increased B sheets in proteins; Proteins can’t be destroyed and recruit more proteins to misfold.
Chemotherapeutic drug used as a mutagen. NER fixes it.
Treats colorectal cancer & other cancers. Inhibits Thymidylate synthase and interferes with pre mRNA processing.
Deficiency in this enzyme causes Kelley-Seegmiller syndrome (complete loss) or Lesch-Nyham (partial loss).
Cannot transport water out of renal tubules
Decreases RNA pol. II activity at low concentrations and RNA pol. III activity at high concentration. Found in poisonous mushrooms.
Binds to Phosphotidylserine and can be used to find cell death.
Targets 28S ribozyme. Results in cleavage of 28S rRNA and halts translation.
Structural analog to Aminoacyl-tRNA (tyrosine). Wherever a tyrosine should be incorporated into the protein, this is instead and causes premature termination.
Mutation in this transporter causes lack of glucose to get into the brain. Leads to mental retardation. Can also be used to identify cancer by fluorescently tagging 2-Deoxy-D-Gluco
Local anesthetic that blocks voltage gated sodium channels
Caused by mutations in UMP synthase. Causes severe anemia, growth retardation & high levels of orotic acid in urine.
Disruption of coagulation factor VII gene mediated by unequal crossing over event.
Group of genetic diseases where lysosomal enzymes found in blood & urine instead of lysosome. Result of mistargeting by mannose-6-phosphate. Causes lysosomal storage disease.
Cancer cells tend to over express this enzyme, needed for DNA synthesis.
Act as CI with PABA and prevent folic acid production in antibacterial.

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