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- Introduction to Protein Structure and Function
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1. Nature’s strategies in the regulation of enzyme activity by modifiers
- Prof. Antonio Baici
- Creation of Protein Variability by Manipulation of Genes
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3. Perspectives on biological catalysis
- Prof. Stephen Benkovic
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4. Fundamentals and principles for engineering proteolytic activity
- Prof. Charles Craik
- Metabolic Diseases Caused by Genetic Mutation
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5. Modifications of pyruvate handling in health and disease
- Prof. Mary Sugden
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6. Mitochondrial fatty acid oxidation deficiencies
- Prof. Niels Gregersen
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7. Inborn errors of ketone body metabolism
- Prof. Toshiyuki Fukao
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8. Cathepsin K in bone and joint diseases
- Prof. Dieter Bromme
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9. Fabry disease: alfa-galactosidase A deficiency and enzyme replacement therapy
- Prof. David Warnock
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10. Acid beta-glucosidase/glucocerebrosidase (GCase)
- Prof. Gregory Grabowski
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11. GM2 gangliosidosis future treatments 1
- Prof. Brian Mark
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12. GM2 gangliosidosis future treatments 2
- Prof. Brian Mark
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13. The neuronal ceroid lipofuscinoses
- Prof. Sandra Hofmann
- Disorders of Blood Coagulation
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14. Advances in fibrinolysis
- Dr. Paul Kim
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16. Structure of thrombin, a Janus-headed proteinase
- Prof. Wolfram Bode
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18. Fibrinogen and factor XIII
- Prof. John Weisel
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19. Factor VIII and haemophilia A
- Dr. Geoffrey Kemball-Cook
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20. Factor IX
- Prof. Bruce Furie
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21. The biology and pathobiology of von Willebrand factor
- Prof. David Lillicrap
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22. Thrombotic thrombocytopenic purpura
- Prof. J. Evan Sadler
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23. Fibrinolysis
- Prof. Edward Tuddenham
- Other Molecular and Metabolic Disorders
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24. Glucose-6-phosphate dehydrogenase deficiency
- Dr. Jane Leopold
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25. Cytochrome b5 reductase deficiency and hereditary methemoglobinemia
- Dr. Scott Reading
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26. Sickle cell disease
- Prof. Martin H. Steinberg
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27. Pyruvate kinase deficiency
- Prof. Alberto Zanella
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28. Heritable disorders of collagen
- Dr. Heather Yeowell
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29. Duchenne muscular dystrophy
- Prof. Jeff Chamberlain
- Archived Lectures *These may not cover the latest advances in the field
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30. Protein crystallography
- Prof. Michael James
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31. Regulation of blood coagulation by the serpin, antithrombin
- Prof. Steve Olson
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32. Rhodopsin and retinitis pigmentosa
- Dr. Shalesh Kaushal
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33. The physiology and pathology of coagulation factor XI
- Dr. David Gailani
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34. Cytochrome b5 reductase deficiency and hereditary methemoglobinemia
- Prof. Josef Prchal
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35. Metachromatic leukodystrophy
- Prof. Volkmar Gieselmann
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36. Serpins and serpinopathies
- Dr. James Whisstock
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38. Pleiotropic and epistatic genes in sickle cell anaemia
- Prof. Ronald Nagel
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39. Genetic disorders of carbonic anhydrases II and IV
- Prof. William Sly
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40. GM2 gangliosidoses
- Prof. Don Mahuran
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41. Kinetic analysis of protein activity
- Prof. Antonio Baici
Printable Handouts
Navigable Slide Index
- Introduction
- Talk outline
- Hemoglobin and Methemoglobin
- Normal oxygen transport
- Methemoglobinemia: two pronged attack
- O2-Hemoglobin dissociation curve
- Methemoglobinemia and cyanosis
- Methemoglobin reduction
- Methemoglobinemia: chronic / acute-toxic
- Causes of methemoglobinemia
- CytB5R gene - structure
- Cytochrome b5 reductase (Cytb5R)
- Cytb5R amino acid sequence
- Cytb5R deficiency type I
- Cytb5R deficiency type II
- Cytb5R deficiency type I vs. type II
- Mutations of CYB5R gene
- Cytochrome b5 reductase deficiency distribution
- Differential diagnosis of methemoglobinemia
- Methemoglobin reduction: 3 pathways
- Methemoglobinemia therapy
- Methemoglobinemia therapy summary
- Acknowledgements
Topics Covered
- Formation of methemoglobinemia
- Review of methemoglobinemias types
- Cytochrome b5 reductase (Cytb5 R)
- Mutations and clinical phenotypes of Cytb5 R deficiency
- Differential diagnosis from other methemoglobinemias
- Therapy of methemoglobinemia
Links
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Talk Citation
Reading, S. (2018, February 27). Cytochrome b5 reductase deficiency and hereditary methemoglobinemia [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 31, 2024, from https://doi.org/10.69645/LXWO7513.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Scott Reading has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
A selection of talks on Cell Biology
Transcript
Please wait while the transcript is being prepared...
0:00
My name is Scott Reading.
I'm an Adjunct Assistant Professor in
the Department of Pathology in Division of Hematology at the University of Utah
and an investigator at
ARUP Laboratories Institute for Clinical and Experimental Pathology
in Salt Lake City Utah.
The topic of this presentation is
Cytochrome b5 Reductase Deficiency as it relates to Hereditary Methemoglobinemia.
0:25
I will be following this outline for the presentation.
I'll briefly review how Methemoglobin is formed and discuss
how it interferes with the proper transport of oxygen in the body.
I will then introduce different causes of Methemoglobinemia and discuss
in detail the role of Cytochrome b5 reductase in this disorder.
This discussion will illustrate two clinical phenotypes and outline what is known
about the various mutations and how they can
change the function of this important enzyme.
Next, I will discuss the differential diagnosis of Methemoglobinemia caused by
Cytochrome b5 reductase deficiency and contrast this with
other types of Methemoglobinemia caused by genetic or acquired conditions.
In closing, I will discuss suggested therapies for Methemoglobinemia.
1:10
To understand the origin of Methemoglobin,
we must start with Hemoglobin.
Hemoglobin is the principal component of red blood cells
responsible for carrying oxygen from the lungs to the tissues.
It is a tetrameric protein complex composed of four globin subunits.
At the center of each globin subunit is
a ferrous iron containing porphyryn ring co-factor called heme.
The ferrous iron binds molecular oxygen from the lungs
converting the ferro-deoxyhemoglobin to ferry-oxyhemoglobin.
Methaemoglobin is an altered state of Hemoglobin.
This occurs when the ferrous iron of
heme in deoxyhemoglobin is oxidized to the ferric state.
In the ferric state, the iron is no longer able to bind molecular oxygen.
In addition, as Hemoglobin is a tetrameric protein with four globin subunits,
when one of these globin subunit hemes is converted to the ferric state.
It affects the other ferrous hemes to have a greater affinity for oxygen.
That result is a decreased ability of
that Hemoglobin molecule to deliver oxygen to the tissues.