IMMS Flashcards
What is the protein in tight junctions?
Occludins
What is the type of protein in adhering junctions?
(E-) Cadherins
What is the transmembrane protein in desmosomes?
Cadherin - e.g. Desmogeins & desmocollins
What is the intermediate filament in epithelial desmosomes?
Keratin
What is the intermediate filament in desmosomes in cardiac cells?
Desmin
What is the transmembrane protein in hemidesmosomes?
Integrin
What is the name of the channel between gap junctions?
Connexon - formed from connexins
What is gametogenesis?
Formation of mature haploid gametes.
This is either through meitotic division of diploid cells or mitotic division of haploid cells
What is Mendel’s second law?
Law of Independent assortment:
Biological selection of an allele has no affect on the selection of another allele
What is the definition of homeostasis?
The state of equilibrium (balance between opposing pressures) in the body with respect to various functions and to chemical compositions of the fluids and tissues.
Essentially, the mechanism in which the body maintains a regulated and stable internal environment
What is the total water content of the body in litres for an average 70kg man?
42L
What is the average water content in litres of the intracellular fluid?
28L
What is the average water content of extra cellular fluid in litres?
14L
What are the two types of extra cellular fluid?
1) interstitial fluid
2) blood plasma
What is the definition of penetrance?
The proportion of people with a gene/genotype which show the expected phenotype.
Can be:
Complete - expresses by all in that genetic population
Incomplete - expressed by only parts of that population
What is an allele?
One of several alternative forms of a gene at a specific locus
What is variable expression?
Variation in clinical features (type & severity) of a genetic disorder between individuals with the same gene alteration
What is sex limitation?
Where the expression of a particular characteristic is limited to one of the sexes
What is meant by genotype?
The genetic constitution of an individual
What is meant by phenotype?
The appearance of an individual which is down to a combination of environmental & genetic factors
What is an autosomal dominant genetic disorder?
A disease that can manifest in a heterozygous state - only one allele needed as it is dominant.
If one parent has an autosomal dominant condition what are the chances the offspring have the condition?
50%
What is a common example of an autosomal dominant condition?
Huntigtons
What is meant by an autosomal recessive disease?
A disease that can only manifest in a homozygous state - two of the alleles are needed
What percentage of offspring would have the recessive condition if the parents were both carriers?
25%
What percentage of offspring would be carriers of the recessive allele if both parents were carriers?
50%
What is meant by X-linked (sex-linked) genetic diseases?
Diseases that are a result of a mutation of the X chromosome
Can there be male to make transmission of X-linked genetic diseases? Why?
No. This is because if a man has a son he will have passed a Y chromosome onto the son, not an X chromosome.
Can males be carriers of X-linked genetic diseases?
No. It would manifest as they only have one X chromosome, there’s no other chromosome to counteract.
What percentage of daughters would be affected if the father had an X-linked genetic disease?
100% would be affected in some way.
If recessive - they would be carriers
If dominant - they would have the condition
What is meant by the term lyonization?
It is where one of the X-chromosome in a female are inactivated. The inactive form is known as a Barr body
What is Kudson’s 2-hit hypothesis?
The idea about genetic mutations being inherited or acquired.
Sporadic cancer - 2 acquired mutations
Hereditary cancer - 1 inherited & 1 acquired
What enzyme converts glucose to glucose-6-phosphate?
Hexokinase
What stages of glycolysis use ATP?
1 and 3
What stages of glycolysis release ATP?
1,3-biphosphoglycerate to 3-phosphglycerate
And
Phosphoenolpyruvate to pyruvate
What is the overall yield of glycolysis
2 ATP, 2 NADH and 2 pyruvate molecules
Where does glycolysis occur?
In the cytosol of the cell
Glycolysis requires oxygen. True or false?
False - it is an oxygen independent process
How many enzyme catalysed reactions are their in glycolysis?
10
What are the molecules in the Krebs cycle starting with pyruvate?
Pyruvate > acetyl CoA > Citrate > Isocitrate > alpha-ketoglutarate > Succinyl CoA > Succinate > Fumarate > L-Malate > Oxaloacetate
What enzyme converts Citrate to Isocitrate?
Aconitase
What enzyme converts Isocitrate to alpha-ketoglutarate?
Isocitrate dehydrogenase
What enzyme converts alpha-ketoglutarate to Succinyl CoA?
Alpha-ketoglutarate dehydrogenase
What enzyme converts Succinyl CoA to Succinate?
Succinyl CoA synthase
What enzyme converts Succinate to Fumarate?
Succinic dehydrogenase
What enzyme converts Fumarate to L-Malate?
Fumarase
What enzyme converts L-malate to Oxaloacetate?
Malate dehydrogenase
What is the yield of the Krebs cycle in one round?
1 ATP’s, 3 NADH’s and 1 FADH2 per glucose molecule
What is the maximum potential ATP yield from aerobic respiration?
38
Where does the Krebs cycle occur?
In the matrix of the mitochondria
Where does oxidative phosphorylation occur?
Across the inner membrane of the mitochondria
How many protein complexes are there in the electron transport chain?
5
What is the energy released from the electrons used to do as they pass along the electron transport chain?
Pump hydrogen ions into the inter-membrane space
What is chemiosmosis?
Where the hydrogen ions that have been pumped into the inter membrane space pass down their concentration gradient through ATP synthase (ATPase). This movement is used to generate the ATP
When does ketogenesis occur?
Where there is an unavailability of blood glucose. E.g. During fasting
What can happen if ketogenesis is insufficient?
Hypoglycaemia
What can happen if ketogenesis is excessive?
Ketoacidosis
What is beta oxidation of fatty acids?
The process of which fatty acids are broken to form acetyl CoA
Where does beta oxidation of fatty acids occur?
In the mitochondria
What is the process of beta oxidation of fatty acids?
1) Fatty acids are activated and transported across the membrane by binding to coenzyme A
2) Oxidation of the beta carbon to a carbonyl group occurs
3) Cleavage of two carbon segments results in the production of acetyl-CoA
4) Acetyl-CoA feeds into the Krebs cycle
5) Cycle repeats until full fatty acid breakdown
What is a buffer?
A compound that resists a change in pH, by preventing an increase or decrease in hydrogen ion concentration, when a small amount of acid or alkali is added
What are the main sources of hydrogen ions?
1) Oxidation of amino acids
2) anaerobic respiration
3) Aerobic respiration through formation of CO2
What does ROS stand for?
Reactive Oxygen Species
What is a reactive oxygen species?
A chemically reactive molecule containing oxygen
What are the two types of Reactive oxygen species?
1) Endogenous - Generated in the body e.g. In oxidative phosphorylation
2) Exogenous - Produced from external sources e.g. Pollutants, tobacco, smoke, drugs, xenobiotics or radiation
What is an endogenous source of superoxide (.O2)
Oxidative phosphorylation (0.1-2% of electrons that pass down the electron transport chain and incompletely reducing oxygen to superoxide)
Note: oxygen is supposed to be reduced to water
What is a respiratory burst?
The rapid release of reactive oxygen species (superoxide and hydrogen peroxide) from cells.
Forms hydroxyl radical and HOCl
What role do respiratory bursts play?
They are important in the immune response. They are important in phagocytosis to degrade internalised particles and bacteria.
E.g. Immune cells use NADPH oxidase to reduce O2 to an oxygen free radical and then to hydrogen peroxide. This is combined with chloride (hypochlorite) and this is used to destroy bacteria.
What is the rate determining step in glycolysis?
Step 3 - phosphofructokinase reaction
What is the normal pH of the blood?
pH 7.4 (7.35-7.45)
What cells have a lifespan of a persons entire life?
Nerves, cardiac muscle, germ cells
What cells have a lifespan of nearly a whole life, they have limited regeneration?
Skeletal muscle
What cells survive for years but are regenrated?
Bones and tendons
What cells have a turnover of a few months?
Blood, skin, connective tissues
What cells have a turn over of days or less?
White blood cells
Cells lining the gut
Euchromatin is found in the nucleus, what is it?
Lightly packed chromatin that is usually under active transcription
Heterochromatin is found in the nucleus, what is it?
Densely packed chromatin that is not under active transcription
What is a nucleolus
It is a ribosome “factor” found in the nucleus of a cell
What is chromatin?
It is a complex of DNA and proteins that forms chromosomes within the nucleus of the cell
What are two characteristics of mitochondria?
1) Have their own DNA
2) Have a double membrane - the inner is highly folded
What is the main function of mitochondria?
The site of oxidative phosphoryation
What is the function that occurs in the outer membrane of mitochondria?
Lipid synthesis and fatty acid metabolism
What is the function that occurs in the inner membrane of the mitochondria?
Respiratory chain and ATP production
What is the function that occurs in the matrix of the mitochondria?
The krebs cycle
What is the function that occurs in the intermembraneous space of mitochondria?
Nucleotide phosphorylation (ADP to ATP)
What is the function of Rough Endoplasmic Reticulum
Site of protein synthesis
What is the function of smooth endoplasmic reticulum?
Lipid synthesis and processing of synthesised proteins
What is the function of Golgi apparatus?
Processes macromolecules synthesised in the ER
How does the Golgi apparatus modify macromolecules?
1) Adds sugars
2) Proteolysis of peptides into active forms
3) Sorts macromolecules
What function occurs at the cis face of the Golgi apparatus?
Recieves transport vesicles from smooth ER and phosphorylates some proteins
What function occurs at the medial part of the Golgi body?
Forms complex oligosaccharides by adding sugars to lipids and peptides
What function occurs in the Trans Golgi network?
Proteolysis and the sorting of the macromolecules into vesicles which bud from the surface
What are the types of vesicles?
1) Cell-surface derived: Pinocytotic and phagocytotic
2) Golgi-derived transport vesicles
3) ER-derived transport vesicles
4) Lysosomes
5) Peroxisomes