Causes of disease Flashcards
what is aetiology?
Aetiology is the cause of disease
What is the meaning of idiopathic?
Any disease that is of uncertain or unknown origin
What is the meaning of sporadic ?
A disease that occurs infrequently and irregularly
What are the two types of disease causes ?
Intrinsic and extrinsic
What are some intrinsic causes of disease?
- Changes in an individuals genome
- Inherited mutations and other genetic variations
- De novo mutations
- Epigenetics modification
What are de novo mutations?
Give an example of a disease which arises this way
A genetic alteration that is present for the first time in one family member as a result of a variant.
Example - Cancer
What do intrinsic factors tend to do?
Typically alter the function of gene
E.g:
Increased protein production
Reduced protein production
Reduced protein function
What are the two ways intrinsic causes can manifest ?
Cell autonomously
Cell non-autonomously
What is cell autonomously ?
This is when only the genotypically mutant cells show the mutant phenotype
- e.g Cell X no longer expresses structural protein Y meaning cell X is the wrong shape.
What is cell non-autonomously?
This is the ability of the genes to affect processes taking place outside the cell.
e.g
Cell X no longer secretes protein hormone Y so cell Z no longer functions
What are some extrinsic factors?
Injury Infection Nutrition /diet Lifestyle Chemical poisoning Radiation exposure
What are some examples of “grey areas” (both intrinsic and extrinsic)?
Allergies as they are due to:
- Sensitive immune system (Intrinsic)
- Allergens(Extrinsic)
What can extrinsic refer to ?
Outside body/cell/tissue/organ
What are genetics and environmental causes ?
Due to inherited gene variants
Exposure to solvents etc
Intrinsic disorder example
Down syndrome -Trisomy of chromosome 21
