Membrane Lipids and Bile Acid Metabolism

Question 1

Cardiolipin:
Location
Function
Special quality

Answer 1

Inner mitochondrial membrane
Maintain respiratory complex of ETC
Only human glycerophospholipid that is antigenic
abundant in myocytes in cardiac muscle

Question 2

Dipalmitoylphosphatidylcholine (DPPC):

Answer 2

Found in Lung lumen
Produced by Type II pneumocytes
Major component of lung surfactant

x = respiratory distress syndrome (premies)

if ratio DPPC: S (sphingomyelin) >2 –> maturity

Question 3

Platelet Activating Factor (PAF):
Structure (R1, R2, R3)
Releasing cell
Function (2)

Answer 3

Saturated alkyl, acetyl residue, choline
Phagocytic cells
Causes platelet aggregation and degranulation; causes neutrophils and alveoli macrophages to produce superoxide radicals

Question 4

Tay-Sachs:
Inheritance
Deficient enzyme(s)
Accumulating substance(s) and location(s)
Defining symptoms

Answer 4

Autosomal recessive
Hexoaminidase A
GM2 ganglioside in brain cells
Cherry red macula (spot in eye), seizures, early mortality

Question 5

Gaucher:
Inheritance
Deficient enzyme(s)
Accumulating substance(s) and location(s)
Defining symptoms

Answer 5

Autosomal recessive
Glucocerebrosidase
Glucocerebroside in spleen, liver, lungs, bone marrow and brain
Hepatosplenomegaly, skeletal disorders, anemia

Question 6

Fabry:
Inheritance
Deficient enzyme(s)
Accumulating substance(s) and location(s)
Defining symptoms

Answer 6

X-linked
alpha-Galactosidase A
Globosides in eyes, kidneys, ANS, CVS
Reddish-purple skin rashes, kidney failure, heart failure, stroke, burning sensations in hands

Question 7

Niemann-Pick:
Inheritance
Deficient enzyme(s)
Accumulating substance(s) and location(s)
Defining symptoms

Answer 7

Autosomal recessive
Sphingomyelinase
Sphingomyelin in spleen, liver, lungs, bone marrow and brain
Hepatosplenomegaly, jaundice, brain damage

Question 8

Krabbes:
Inheritance
Deficient enzyme(s)
Accumulating substance(s) and location(s)
Defining symptoms

Answer 8

Autosomal recessive
beta-Galactosidase
Galactocerebroside (globoid cells, myelin breakdown, brain cell destruction)
Mental and motor deterioration, irritability, fever, feeding difficulties, weakness, deafness, blindness

Question 9

Sandhoff:
Inheritance
Deficient enzyme(s)
Accumulating substance(s) and location(s)
Defining symptoms

Answer 9

Autosomal recessive
Hexoaminidase A and B
GM2 and globosides in brain and others
(More severe Tay-Sachs) Motor weakness, cherry-red macula, macrocephaly, seizures

Question 10

Metachromatic Leukodystrophy (MLD):
Inheritance
Deficient enzyme(s)
Accumulating substance(s) and location(s)
Defining symptoms

Answer 10

Autosomal recessive
Arylsulfatase A
Sulfides in NS, liver and kidneys
Ataxia, muscle wasting and weakness, blindness, convulsions, juvenile dementia, paralysis, adult psychiatric disorders

Question 11

Farber:
Inheritance
Deficient enzyme(s)
Accumulating substance(s) and location(s)
Defining symptoms

Answer 11

Autosomal recessive
Ceraminiside
Ceramide in joints, CNS, liver, heart, kidneys
Impaired motor and mental ability, arthritis, swollen lymph nodes and joints, hoarseness

Question 12

Plasmalogen

Answer 12

ethanolamine

type of ether phospholipid characterized by the presence of a vinyl ether linkage

cc: alzheimers (plasmalogen deficiency)

Zellweger syndrome (absensce of functional peroxisomes)– decreased plasmalogens

Question 13

bile acid metabolism

Answer 13

7alpha hydroxylase