Study Set Content:
found in the ER, peroxisomes, and mitochondria
Acyl CoA synthetase
AMP
– adenosine monophosphate
PP
pyrophosphate
In the presence of ATP and coenzyme A (CoA), acyl CoA synthetase (thiokinase) catalyzes the conversion of a Free Fatty Acid to an active Fatty Acid (acyl CoA)
β-oxidation
Acyl CoA cannot pass through the inner mitochondrial membrane, therefore it needs
carnitine transporter
Acyl groups from CoA are transferred to carnitine by carnitine palmitoyl transferase I (CPT I) acylcarnitine is formed which is then carried to the mitochondrial matrix by carnitine acylcarnitine translocase; acyl group is then transferred back to CoA by carnitine palmitoyl transferase II (CPT II), reforming acyl CoA
Acyl groups from CoA are transferred to carnitine by carnitine palmitoyl transferase I (CPT I) acylcarnitine is formed which is then carried to the mitochondrial matrix by carnitine acylcarnitine translocase; acyl group is then transferred back to CoA by carnitine palmitoyl transferase II (CPT II), reforming acyl CoA
β-oxidation of Fatty Acids
1. Acyl CoA dehydrogenase converts acyl CoA to acyl trans-enoyl CoA
2. Hydratase converts it to 3-hydroxy acyl CoA.
3. Hydroxy acyl CoA dehydrogenase converts it to 3-keto acyl CoA.
4. It is further converted to acyl CoA and acetyl CoA by Thiolase
The cycle is repeated (blank) times for palmitic acid for complete oxidation.
7
will proceed until only
2 carbon units remain
GAUCHER’S DISEASE• Accumulating lipid:
Glucocerebroside (bone marrow, spleen and liver
GAUCHER’S DISEASE Missing/defective enzyme
: β-Glucosidase
GAUCHER’S DISEASECause:
mutations in the GBA gene
- GAUCHER’S DISEASE
-
treatable and mild; brain is not affected
Type 1
GAUCHER’S DISEASE
untreatable; irreversible brain damage
Type 2
Gaucher's disease, involves neurological symptoms; slow progression
Type 3:
GAUCHER’S DISEASE
: hepatosplenomegaly, anemia, thrombocytopenia, skeletal abnormalities
GAUCHER’S DISEASE Inheritance
autosomal recessive
KRABBE’S LEUKODYSTROPHY• Accumulating lipid
Galactocerebroside (brain)
Accumulation results to demyelination of the myelin sheath
KRABBE’S LEUKODYSTROPHY
KRABBE’S LEUKODYSTROPHY Missing/defective enzyme
β-Galactosidase
