Cause of Disease: Overview Flashcards
What is etiology?
Causes of disease
Define idiopathic
Conditions with no known cause
What are the 2 classifications of disease? (what does each mean)
Intrinsic (changes in genome) and extrinsic
Give examples of intrinsic causes of disease
Changes in genome includes
- nuclear or mitochondrial changes
- inherited mutations + genetic variations
- de novo mutations
- epigenetic modifications (changes expression rather than genome itself)
What are the 2 levels of genetic variation that arises from intrinsic causes of disease?
Cell autonomously and cell non-autonomously
How does altering the function of a gene (intrinsic cause of disease) affect proteins made?
More/less protein can be made or the same amount is made with more/less activity
What is meant by cell autonomously?
A level of manifestation of genetic variation
- cell no longer expresses correct protein so it becomes the wrong shape
What is meant by cell non-autonomously?
A level of manifestation of genetic variation
- cell doesn’t secrete protein hormone which needs to bind to another cell so the other cell no longer functions
What are examples of extrinsic causes of disease?
- Injury
- Infection
- Nutrition/diet
- Lifestyle (smoking/work place toxin exposure)
- Chemical poisoning (acute/chronic)
- Exposure to radiation
Why is age seen as a contributing factor of disease? + example
- TIME (More mutations accumulated over longer time)
- BIOLOGICAL AGEING (Intrinsic causes/changes + chronic inflammation) - e.g. menopause = lower oestrogen = higher risk of osteoporosis disease
What are the intrinsic and extrinsic risk factors of Parkinson’s?
Age (time and biological aging)
Genetics (intrinsic - inherited genes)
Environment (exposure to pesticides/herbicides/solvents/toxins)
What are the 4 categories of intrinsic molecular basis of disease? + examples of each
Cancer - leukaemia, lymphoma, myeloma, breast, prostate
Developmental diseases - neural tube defects
Inherited anaemia - sickle cell disease, beta thalassaemia
Inherited metabolic diseases - phenylketonuria
What is B thalassaemia?
Inherited blood disorder, makes abnormal haemoglobin = less RBCs in body
What is phenylketonuria (PKU) ?
Rare inherited disease where phenylalanine amino acid builds up. (gene defect causes enzyme needed to break down the amino acid to not be made)
