genetic in medicine Flashcards
Longevity
- longevity is the duration of a person’s life
- homozygous recessive mutation can cause an individual to die young without acceleration of aging
- accident can also do the same
- Longevity is a polygenic trait: variation in genes and lifestyle choice contribute to it
- genetic contribute around 25-50%
- mutant in model organism is used to study longevity
mutation in fly and longevity
-mutation of chico gene increase the longevity of fly
life expectancy
-there is an increase in life expectancy when compare to the past-> importance of lifestyle
ageing
- focus on senescence( physiological, physical and mental decline)
- intrest in the rate of senescene
Theories of ageing
Genetic theory:
-genes we inherit from our parent code for our lifespan
-accumulation in damage to our somatic cell
Non genetic theory
-damage done to our body by free redicals
-changes in metabolism
-autoimmune theory (our immune system attack the body)
Can we slow ageing
-dietary restriction have shown to increase the lifespan of many organism
Cancer
A cancer is a clone of cells dividing in an unregulated way.
The dividing tissue invades normal body organs and disrupts their function
• sarcoma eg., bone • carcinoma eg., breast, bowel • haemopoeticand lymphoid malignancies eg., lymphoma, leukaemia
Cell numbers
Cell numbers are kept constant in an adult by : 1. cell replication 2. cell death (apoptosis)
problem in these system can lead to cancer
metastasizes
Cancer becomes a problem when it invades other tissues – metastasizes
Cancer genes
Oncogenes –act in a dominant way (only need one mutation) Generally are changed proto-oncogenes
2.Tumour suppressor genes -block tumour development by regulating genes involved in cell growth -both alleles require inactivation to change this (act in a recessive way)
Oncogenes
Ø We all have copies of proto-oncogenes – Ø genes are often involved in cell replication or cell death and kept in check (regulated) by other genes often tumour suppressor genes
Ø Activation of a proto-oncogene to become an oncogene can occur in a number of ways Ø Mutation –change in DNA sequence Ø Loss of regulation (control) by the tumour suppressor gene Ø Chromosome changes eg., a break and rejoin so proto-oncogene is in new place where it is activated
Tumour Suppressor Genes (TSG)
Both copies have to be inactivated to loose their effect so recessive
Germ-line = mutation of TSG in a gamete (sperm or egg) so passed on to offspring
Somatic = mutation of TSG in a body cell –not passed on to children
Cancer is a multi step process
At each stage a clone containing the previous mutation expands and makes a bigger target for subsequent mutations
personalize medicine
-Not all individual of a particular illness react positively to a medicine
-The underlying cause could be different in individuals( needs to be understand for effective treatment)
-If we know who the responder is, the paitient will receive the best possible treatment and save money
-Aim to predict illness(even before birth)
ethical issues should patient know of the disease they have is incurable
Problem with genome project in medicine
-There are different explanations for different people but some mutation consistency can be observe