Protein malfunction in Metabolic Disorders Flashcards
What happens in Type 1 diabetes?
The body’s own immune system attacks its own insulin and pancreatic cells that manufacture it. (hygene theory)
What is GCK in type 1 diabetes and on what chromosome?
An enzyme that is key to glucose metabolism and helps to modulate insulin secretion, chromosome 7
What is the treatment fot type 1 diabetes?
Appropriate dose of daily insulin is used to contol the disease but not cure it
What is insulin dependent diabetes mellitus locus 1 or IDDM1 and on what chromosome is it on?
Chromosome 6 and it has genes for antigens.
Obesity: what is the % of body fat that counts as being obese?
Men 25%, Women 30%
What is leptin?
Acts as a lipostat, a network of signals contribute to weight homeostasis
Where is leptin produced, and what is it encoded by and on what chromosome?
Adipocytes and is encoded by the Ob gene on chromosome 7
What is the regulation of satiety? Give in normal and inn disease
Normal: fat stores in adipocytes elevated—> leptin serum released to brain—-> saiety redulated, person doesnt eat
Disease: Disrupted regulation of satiety, therefore the individual eats more.
What does disrupted regulation of satiety lead to?
It leads to energy overload —>nutrient overload not being used—>leads to formation of adipocytes are building more lipids stores
What is insulin rseistance?
Body doesnt respond to insulin–> insulin allows glucos to be taken up by blood strean into different tissues.
What does PPARalpha do in the liver and muscle cells?
- increase fat oxidation and fasting response in the liver
- increase fat oxidation in the muscles
What does PPARgamma do in muscles, adipose tissue and blood?
- increase insulin action in muscles
- increase adipocyte differentiation and survival and increase fat uptake and storage in adipose tissue
- decrease lipid conc in the blood
What does PPARdelta do in muscles and adipose tissues
- Increase fat oxidation and energy expenditure in both muscles and adipose tissue
Wilson disease: what is it?
Autosomal recessive disorder of copper transport, resulting in copper accumulation and toxicity to the liver and brain. failure to release copper into bile
What is te gene responsible for Wilson’s disease?
ATP7B
What is the main cuase of HH (hereditary hemochromatosis)?
Increased amount of iron that the body absorbs from the gut. Excess iron can lead to cirrhosis in the liver or diabetes if pancreas is affected.
What gene can cause HH if mutated?
HFE
What are the 3 main characteristic of HH1?
- chronic excessive intestinal absorption of diety iron
- increased deposistion of iron in parenchymal cells
- decreased iron in reticuloendotheilial stores
What is HFE molecular function?
Iron sensing
Senses iron replete conditions, lots of iron in the blood
HFE interacts with TfR2,signalling complex, produces a signalling cascade allows production Hepcidin—> regulation of whole body iron homeostasis
What happens to HFE function in disease conditions?
HFE mutated—>signalling complex is not formed—> there is a loss of signalling, lack of hepcidin induction—> loss of iron homeostasis—> leads to progressive iron loading
