HIS 108- Final Exam Guide - Comprehensive Notes for the exam ( 38 pages long!)

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1 Dec 2017
Department
Course
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UBishop's
HIS 108
FINAL EXAM
STUDY GUIDE
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BIOLOGY 1A03 Theme 3 Applied Lecture #1
1
Treating Lactose Intolerance
Digesting lactose
Serves as a primary energy source (milk) for
young animals
The microvilli in the small intestine in is where
the gene for lactase is expressed
Lactase hydrolyzes lactose to glucose and
galactose and is present on apical surface of
absorptive intestinal enterocyte cells
Leloir pathway
Galactokinase phosphorylates galactose
Gal-1-P uridyltransferase converts Galactose-1-P to Glucose-1-P
UDP-Gal epimerase converts UDP-Galactose (product of second enzyme) to UDP-
Glucose
Lactase Production Generally Decreases After Weaning
~65% of humans have reduced ability to digest lactose
after weaning
humans follow same trend as shown with rabbits
Mutations That Keep Lactase Gene Permanently On
Arose randomly in adjacent regulatory gene (MCM6) and once it arose gave distinct
advantages to these populations (enhances LCT transcription)
Due to ancestry that consumed a lot of lactose
Lactase Non-persistence
Gene is regulated at a lower level
Can still consume moderate amounts in diet without experiencing any difficulties
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2
Lactose Intolerance
Congenital (born with)
Mutation in lactase gene (single amino acids or stop codon that lead to polypeptides
that are too short in the LCT final gene that causes the protein to fold improperly)
Cannot express the lactase gene that codes for the lactase protein
Lactose (bulky) makes it to the large intestine where it shouldn’t be which modifies the
osmolarity watering down feces causing diarrhea
Note: LCT gene on chromosome 2 codes for lactase enzyme
Note: Prokaryotic cells can break lactose down in the large intestine because they have
-galactosadase and lactose permease that can digest lactose but they produce gasses
leading to bloating, gas, cramps, etc.
Galactosemia
Galactose in blood
Born without the enzyme(s) needed for galactose processing
Type I no Gal-1-P uridyltransferase
Type II no Galactokinase
Type III no UDP-Gal epimerase
Inherited mutations by the GALT, GALE GALK1 and genes on chromosomes 9
Mutations alter single amino acids or stop codon that lead to polypeptides that are too
short
Almost completely eliminate enzyme activity
Symptoms
o Brain damage
o Cataracts
o Jaundice
o Enlarged liver
o Kidney damage
Modification of the Microbiome
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