The Blue People of Troublesome Creek

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The Blue People of Troublesome Creek
orSingin the Blues
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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).
• 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

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

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Martin Fugates Family(redheaded bride)
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Meet the Fugates

• Martin Fugate had methemoglobinemia, a condition
  that results in abnormal hemoglobin

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Meet the Fugates

• A symptom of this condition is blue skin
• which is due to the absence of the enzyme
  diaforase, an enzyme that converts
• methemoglobin to hemoglobin.

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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

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Fugate Pedigree
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The Whole Family up to Luna (6)
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Luna Fugate and John Stacey
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Luna Fugates Pedigree
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Appalachian Region

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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 Martins 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

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A From Benjamin Arnold StacySubject Fugate
PedigreeDate Sun, 14 Mar 1999 204306
-0500To Whom It May ConcernMy 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_at_zeus.chapell.com
stustacb_at_acs.eku.edu
Message from Benjamin Stacy