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Understanding Genetic Disorders and Mutations: Can We Find a Cure?

Explore the world of genetic disorders like Sickle-Cell Disease, Hemophilia, and Albinism, and delve into the mutations that cause them. Learn about the impact of mutations on traits and the factors that trigger them, from UV rays to chemicals. Discover how mutations can lead to diseases or even advantages, and why they accumulate with age. Find out the differences between Point and Frame Shift Mutations with engaging examples like Sickle Cell Anemia. Uncover the critical role mutations play in human health and evolution, and whether these disorders can be cured.

cheryl-montgomery
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Understanding Genetic Disorders and Mutations: Can We Find a Cure?

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  1. Mutations Definition: changes to an organism’s DNA sequence

  2. Genetic Disorders in Humans Sickle-Cell Disease Hemophilia albinism Phenylketonuria Cystic Fibrosis Tay Sachs Disease colorblindnessAdrenoleukodystrophy (Lorenzo's Oil)Herditary DeafnessCoffin-Lowry SyndromeAchondroplasia (dwarfism)Fragile X Syndrome Huntington's DiseaseMarfan Syndrome (Alton Giant)Trisomy 13 (Edward's Syndrome)Phenylketonuria (PKU)Rett SyndromeKlinefelter SyndromeTurner SyndromeRett SyndromeProgeria (premature aging)Xeroderma pigmentosumGaucher DiseasePrader-Willi SyndromeDuchenne Muscular Dystrophy Can we cure these disorders?

  3. X-Men…and women

  4. Albinism

  5. Progeria

  6. Marfan Syndrome

  7. What causes mutations?

  8. What causes mutations? • Wrong base is added during DNA replication. • Environmental factors: • UV rays (sunlight, tanning beds) • X-rays • Radiation • Chemicals • Cigarette smoke • Mutations can lead to cancer, diseases, nothing, or an advantage • Mutations accumulate with age

  9. How do mutations change a trait? • Normal • Mutation • Example

  10. What is a mutation? • A change in the DNA nucleotides • 2 general types: • Point Mutation or Substitution 1 base in the DNA is changed or substituted for another • Frame Shift Mutation 1 base is added or removed so the reading frame is shifted over

  11. Substitution • Substitution: One base is switched for another • THE FAT CAT ATE THE RAT. • THE FAT CAP ATE THE RAT. ??

  12. Substitution DNA: CCT GAG GAG CCT GTG GAG Pro –Glu– Glu Pro – Val – Glu • One base is changed, so only one amino acidcould be changed

  13. Substitution: Example Ryan Clark Sickle Cell Anemia Abnormal hemoglobin that distorts red blood cells January 3, 2012: “The Pittsburgh Steelers safety and leading tackler won’t play in Sunday’s NFL playoff game at the Denver Broncos due to a blood condition that led to major medial complications the last time he played in the mile-high altitude of Denver.” - From USAtoday.com

  14. Frame Shift Mutation • Insertion: A base is added to the DNA • THE FAT CAT ATE THE RAT • THE FAT ECA TAT ETH ERA . • Deletion: A base is removed from the DNA • THE FAT ATA TET HER AT  C in “CAT” is gone. • Adding or deleting a base shifts the reading frame. • All of the codons after the mutation are changed, so all the amino acids are changed.

  15. Fruit Flies and Mutations

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