MODULE 11                                                                                 Blue-Fugate

              In 1975 Benjamin A. Stacy was born in a modern hospital just outside of Hazard Kentucky. He was lean, lanky, red-haired, and blue. His color, as he was rushed to the nearby University of Kentucky Medical School, was described as being that of a “bruised plum”. Two days of testing provided no answers, but Ben’s pedigree could. Ben was a “Blue-Fugate” and suffered from a form of Methemoglobinemia. As you work through this activity and find out what caused Ben’s condition you will need to answer all of the following questions. Because of the way the site is set up, you may answer these questions in any sequence. They are all part of one big blue puzzle.

            First stop is NCBI. (http://www.ncbi.nlm.nih.gov/ ) As you will notice when you look at the column on the left of the site there are links to the Literature Data Bases of PubMed, a compilation of journal articles on a variety of medical related topics, and OMIM. Sometimes you can go to the right hand column and select the ‘Genes and Disease’ link and go directly to a description of a disease and its biology. But don’t try that here because our Methemoglobinemia isn’t there. Select the “Literature Data Bases” link and go to OMIM. At OMIM, type in the disease Methemoglobinemia. Many possible links appear but we’ll focus on the first one listed as #250800.

1- What are 2 other names by which this condition is known?

2- On which chromosome and arm is this gene found?

3- In what other mammal is this condition known to exist?

4- What important mitochondrial gene is neighbor to the one

   causing Methemoglobinemia ?

5- The history of this gene is quite distinguished. Why?

6- How did doctors first ‘cure’ this disorder?

7- According to Schwartz and Jaffee, people of what ethnic

   background show an abnormally high frequency of this

   condition?

8- In what years were the 3 detailed studies of the Blue Fugates done?

9- According to the Clinical Synopsis, how does

    Methemoglobinemia affect the respiratory system?

   (Be sure you can define in simple words any term used)

10- Ben’s condition in part is due to the consanguinity seen in his pedigree.

     Meaning what?

11- What about Ben, what happened to him?  Check for yourself and see.  

      www.people.Virginia.EDU/~rjh9u/fugate.html

Module 11    Answers to Ben and the Blue Fugates

• Diphorase Deficiency  or NADH-cytochrome b5 Reductase Deficiency

• Chromosome #22 on the large/q  arm.

• A similar condition exists in the mouse.

• ATP Synthase

• Methemoglobinemia was the first hereditary trait in which a specific enzyme deficiency was identified ( Gibson, 1948) { Remember that old one gene one enzyme hypothesis?}

• With mega-doses of vitamin C.

•  In people of Algerian and Kabyle origin.

• 1964, 1982, and 1983

• Respiratory dyspnea. {have them look that one up}

• Consanguinity as they will find out is not necessarily always marriage of first cousins, just close too it!

• Ben? Why not read for yourself and find out!