human disease associated with organelles (OMIM DATABASE)

Question 1

mitochondrial disorder

LEBERS HEREDITARY OPTIC NEUROPATHY

Answer 1

caused by a mutation inside the DNA of mitochondria
this disease is due to a problem with the first enzyme in the electron transport chain (NADH oxidises)
the NADH is made on the mitochondria ribosomes and if its defective it can cause disease
as it is caused by a specific protein which is made in the mitochondria if you replace it you can solve it

optic neuropathy because it is a single which leads to a reduction in the activity of that protein
only the cells that need a lot of energy such as the eye optic or the brain( -neuro)is when you have a problem
even with the disease most cells have enough ATP its only the cells that need a lot of suffer causing the disorders

Question 2

lysosomal storage disease:

GAUCHERS DISEASE (GLYCOLIPID STORAGE)

Answer 2

mutation in an enzyme which breaks down glycolipids which cause severe neuro-degeneration

Question 3

peroxisomal disordes

ZELLWEGER SYNDROME (PROTEIN IMPORT)

ADRENOLEUKODYSTROPHY (LORENZO’S OIL)

Answer 3

specific peroxisomal protein imports into the peroxisome - if you have a problem with this function you can end up with severe diseases

Question 4

ER protein folding disorder

Answer 4

Proteins that are stuck in the ER because they are not folded so they can’t be transported to the surface

Disease of membrane transport as it can’t transport chloride across the membrane to the cell surface