unit 8 Flashcards
What are mutations?
Any change to a nucleotide base.
What are mutations usually caused by?
errors during DNA replication.
What are the 6 types of mutations?
*Substitution
*Deletion
*Addition
*Duplication
*Inversion
*Translocation
What can a mutation to a polypeptide that makes up an enzyme cause?
It may change the shape of the enzymes active site. This may stop substrates from being able to bind to the active site meaning the enzyme cannot catalase its reaction.
Do some mutations increases the risk of developing a cancer?
Yes, BRAC1 can increase the chances of developing breast cancer.
Can some mutations cause genetic disorders?
Yes, e.g. cystic fibrosis. If a gamete containing a mutation for a certain type of cancer or genetic disorder is fertilised, the mutation will be present in the foetus. These are hereditary mutations.
Why do not all mutations lead to a change in the amino acid sequence?
Degenerate code
What is a frameshift mutation?
Additions, duplications and deletions almost always cause a change to the amino acid sequence of a polypeptide. It causes a change in the number of bases in the genetic code causing a ‘shift’ in the triplets being read called a frameshift. The entire gene is read in a different way. The earlier on the gene the mutation is the bigger the change.
What increases the rate of mutations?
Mutagenic agents
What are examples of mutagenic agents?
Radiation such as UV or ionising, some chemicals e.g. benzene and some viruses e.g. Human papillomaviruses (HPV).
What ways do mutagenic agents increase the rate of mutations?
*Acting as a base
*Altering bases
*Changing the structure of DNA
Mutagenic agents acting as bases-
chemicals called analogues can substitute for a base during replication changing the base sequence eg 5-bromouracil can substitute for thymine and pair with guanine instead of adenine causing a substitution mutation.
Mutagenic agents altering bases
some chemicals cans delete or alter bases Eg alkylating agents can add an alkyl group to guanine so that it pairs with thymine instead of cytosine.
Mutagenic agents changing the structure of DNA
some types of radiation can change the structure of DNA e.g. UV radiation can cause thymine bases to join up together.
What are acquired mutations?
Mutations which occur after fertilisation.
What happens if these acquired mutations occur in the genes which control mitosis?
It leads to uncontrollable cell division and will result in a tumour forming.
What is a tumour?
A mass of abnormal cells. Two types-
Benign and Malignant.
What is a benign tumour?
These are not cancerous. They usually grow slowly and are often covered in fibrous tissue which stops them invading other tissues. They are often harmless unless they cause blockages, put pressure on other organs or are difficult to remove e.g. in the brain. Some benign tumours can become malignant.
What is a malignant tumour?
These are cancerous. They grow rapidly and to a large size. Cell nucleus is larger and darker due to an abundance of DNA. Cells become unspecialised. Form secondary tumours. Effects such as weight loss and fatigue. Freq occur again after treatment.
In what ways do tumours differ from cells which are normal?
- The nucleus is larger and darker and can have more than one nucleus
- Have an irregular shape
- They don’t produce all the proteins to function properly
- They have different antigens on their surface
- They don’t respond to growth regulating processes
What are the two types of genes which control cell division?
Tumour suppressor genes (TSG) and Proto-oncogenes
What other factors can cause the growth of tumours?
Oestrogen and Abnormal methylation of DNA
What are tumour suppressor genes?
These genes slow cell division, repair mistakes in DNA and tell cells when to die by producing proteins which either stop cell division or cause the cell to self destruct (apoptosis).
If a mutation occurs to the TSG, it is inactivated so stops inhibiting cell division and cells can rapidly divide. Those TSG’S that are inactivated that survive can clone themselves and form tumours.
What are proto-oncogenes?
These genes stimulate a cel to divide when growth factors attach to a protein receptors on its cell surface membrane.
If a mutation occurs then the cell can overreact and the cells will divide uncontrollably.
A mutated proto-oncogene is called an oncogene.
If a proto oncogene mutates to an oncogene it can become permananently activated for what two reasons?
-oncogene may code for a growth factor that is then produced in excessive amounts, again stimululating excessive cell division.
-Receptor protein on the cell surface membrane can be permanently activated so so division is switched on even in absence of growth factors
Abnormal Methylation of TSGs
Methylation means adding a methyl group to something. When methylation occurs normally to DNA it can control if a gene is transcribed (copied to mRNA) and translated (made into a protein).
Hypermethylation is when methylation occurs too much= TSGs being inactivated.
hypomethylation is when methylation occurs too little (normally in oncogenes)=inactiavted
Oestrogen
Some women produce more oestrogen than others. This can cause menstruation to begin younger and menopause to begin later. There is a theory that exposure to oestrogen for a long period of time can increase the risk of breast cancer but researchers are not completely sure why. Transdermal HRT has no extra risk associated. Some theories include:
*Oestrogen causes proto-oncogenes to mutate into oncogenes in breast tissue
What does it mean by some cancer’s being polygenetic?
That they are triggered by many environmental factors which means it is difficult to know which factor has the greatest effect.
Ways of preventing cancer?
Screening such as a masectomy to get breasts removed if a women has the BRAC1 gene
How can you treat skin cancer?
If it is due to BRAF protooncogene it can be treated with a drug which inhibits the enzyme produced by the mutated gene to stop the cell expressing.
What are examples of future stem cell therapies?
For spinal cord injuries the damaged nervous tissue can be replaced.
To replace bladders damaged by disease.
For respiratory and heart diseases.
What are the ethical issues surrounding embryonic stem cells being used?
They have a right of life.
Embryo not used in IVF would be destroyed anyway.
Embryo can become every type of cell.
What are the ethical issues surrounding adult stem cells being used?
Doesn’t destroy an embryo
Only become a limited no of cells
What are the ethical issues surrounding stem cells from unfertilised eggs which have been induced to divide?
No right to life as not an embryo
Would not produce a foetus if implanted in the womb.
What are the benefits of stem cell therapy?
Can improve the quality of life for ppl
Expensive
Using patients own cells to grow organs and tissues which would not be rejected.
What is bone marrow used for?
Make blood cells. Transplanting stem cells which is found in bone marrow from a healthy patient to a patient producing abnormal stem cells can produce new healthy stem cells.
Used to treat leukemia, lymphoma cancer, sickle cell anaemia etc
What are stem cells?
Undifferentiated cells which can differentiate into specialised cells.
What are sources of stem cells?
Embryonic stem cells-can differentiate into any cells
Umbilical cord stem cells- taken from umbilical cord blood straight from birth
Placental stem cells- only specialise into some cells
Adult stem cells- found in foetus to adult. They are specific to a particular tissue or organ within which they produce the cells to maintain and repair tissue.
What are forms of stem cells?
Totipotent stem cells which can differentiate to any type of body cell including placenta. Only in mammals in the first few cellular divisions of embryo.
Pluripotent stem cells-are after 1st division of embryo. Form any body cell excluding placenta.
Multipotent- found in adults and can differentiate to limited no of specialised cells eg adult and umbilical cord blood.
Unipotent- only differentiate to one type of cell. Derived from multi potent stem cells and are made in adult tissue
What are induced pluripotent stem cells?
Where scientists obtain stem cells from embryos and some adult tissues and also creating stem cells in the lab. Process involves reprogramming these stem cells to express transcription factors which express genes associated w pluripotent cells.
How to induce pluripotent stem cells?
Induce the stem cells with a modified virus. The virus has genes coding for transcription factors in it’s DNA. When the virus enters and infects adult cells the viral DNA is passed into adult cells DNA and these cells will produce transcription factors.
What type of stem cells form from adult mammals from 8 weeks onwards?
Multipotent and unipotent
What are gene switches?
Where stem cells differentiate in their development and they only transcribe and translate part of their DNA. All stem cells produce the same genetic info but not all will express the same genes. Different conditions will cause some genes to be on or off.
What is specialisation like in most animal stem cells?
In most, specialisation is irreversible. For example, red blood cells loose their nucleus when they differentiate so cannot differentiate again. Adult stem cells replicate by mitosis to replace any which have been specialised.
What are cardiomyocytes?
Unipotent heart muscle cells. Old or damaged cardiomyocytes can be replaced by small no of unipotent cardiomyocyte cells in the heart.
What are transcription factors?
They are proteins which control transcription by binding to DNA. Most of the time they are inactive in cytoplasm as they have inhibitor attached.