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The Blue People of Troublesome Creek

The Blue People of Troublesome Creek. or Singin’ the Blues. Why Study Blue People:. 1. Genetics : blue color = inherited trait. 2. Biochemistry : inherited trait due to mutation that causes an enzyme deficiency (NADH diaphorase or methemoglobin reductase).

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The Blue People of Troublesome Creek

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  1. The Blue People of Troublesome Creek orSingin’ the Blues

  2. Why Study Blue People: • 1. Genetics: blue color = inherited trait. • 2. Biochemistry: inherited trait due to mutationthat causes an enzyme deficiency (NADH diaphorase or methemoglobin reductase). • 3. Molecular Biology: Proteins such as hemoglobin and enzymes are coded by genes in the DNA • 4. Physiology:Iron in the hemoglobin of red blood cells carries oxygen from the lungs to the cells

  3. Relationships: circulation, respiration, energy utilization, genetics &heredity and molecular biology. • Microevolution = decide whether the blue people of Appalachia are “evolving”?

  4. Martin Fugate’s Family(redheaded bride)

  5. Meet the Fugates… • Martin Fugate had methemoglobinemia, a condition that results in abnormal hemoglobin

  6. Meet the Fugates • A symptom of this condition is “blueskin” • which is due to the absence of the enzyme diaforase, an enzyme that converts • methemoglobin to hemoglobin.

  7. Meet the Fugates… • Martin married a carrier of the disease and they bore seven children; four of which were blue • The condition is inherited as a recessive trait and would appear most often in an inbred line

  8. Fugate Pedigree

  9. The Whole Family up to Luna (#6)

  10. Luna Fugate and John Stacey

  11. Luna Fugate’s Pedigree

  12. Appalachian Region

  13. Geographic Isolation… • The people of Troublesome Creek were isolated from the rest of the country. When the town was settled there were no roads, making it hard to get out and people tended to intermarry • One of Martin’s sons married his maternal aunt and 100 years later Benjy Fugate was born • As railroads and development swept through, the blue Fugates started moving out of Troublesome Creek and marrying other people • The inherited blue began to disappear as the recessive gene spread to families where it is unlikely to be paired to a similar gene

  14. A From: Benjamin Arnold StacySubject: Fugate PedigreeDate: Sun, 14 Mar 1999 20:43:06 -0500To Whom It May Concern:My name is Benjamin Arnold Stacy, Ben for short. I am the "Benjy" (misspelled in the original article in Science 82) mentioned in the article. My mother's maiden name is Hilda B. Godsey. I was surprised to see that someone had taken the time to map the genealogy of my family. I would like to thank you for taking that interest, because it was something that I had wanted to do my self. I do not know that much about methemoglobinemia and happened to come across this web site while searching. Just for your information, I am 24 years old now and am in my senior year of college at Eastern Kentucky University. The color of my lips and finger nails usually draws some attention, but mostly out of concern for my health or curiosity. I have had no major health problems related to the disorder and simply try to live an average life in spite of being "blue." Again, thank you for your efforts.Benjamin Arnold Stacy bstacy@zeus.chapell.com stustacb@acs.eku.edu Message from Benjamin Stacy

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