B1 Test 1 Flashcards
Alveolar hyperventilation can cause what pH imbalance?
Respiratory alkalosis; concentration of C02 becomes too small and concentration of bicarbonate overwhelms it
Be able to tell the difference between a strong acid and a weak acid. What roles does the Ka play in determining this?
Strong acid has a Ka value over 1. A weak acid has a Ka value less than 1.
Define diabetic ketoacidosis. What are common symptoms of ketoacidosis.
_____________ is caused when the is insufficient insulin to usher glucose into the cells, so they start to starve. Since cells are starving the liver starts to metabolize fatty acids and produce ketone bodies. However none of these are able to be used as energy without insulin. Patients will often present as sluggish, comatose, rapid deep breathing, high glucose levels, ketone bodies present in urine and bloodstream.
Define molality?
moles of solute/ 1 kg of solvent (moles/mass)
Define molarity?
Moles of solute/ 1 liter of solution. (mass/volume)
Define osmotic diuresis. What causes this condition?
____________ occurs when there is an extremely high osmolality of the glomerular filtrate (using due to the presence of glucose, ketone bodies, or other solutes in colllecting duct) that cause water to be brought across the concentration gradient and to be excreted in urine. This will lead to extreme dehydration.
How do you calculate the pH of any solution?
pH= -log [H+]
How does bicarbonate act as an effective buffer?
Bicarbonate acts as an effective buffer by providing a weak acid and its conjugate base to help stabilize the change in pH around the pKa of the weak acid. The pKa defines the pH where 50% conjugate base and 50% weak acid is present. Stabilization occurs as hydrogen ions can either be accepted by the conjugate base if pH drops to low or donated by the weak acid if pH climbs too high.
How is the partial pressure of C02 related to the pH? What is the equation that explains this phenomenon?
The higher [CO2] the more acidic the pH will become. Increase in [CO2] lowers pH.
How many liters of blood is contained within the normal human body?
5 liters
In terms of pH stabilization, why is heavy breathing needed during exercise?
Heavy breathing is needed due to the accumulation of lactic acid and CO2. Heavy breathing exhales CO2 and lessens the concentration of H+ in solution, thus raising the pH back to normal levels.
Water is a good type of solvent for what compounds?
ionic solvents, polar compounds
What are 3 examples that can lead to a high anion gap? Why?Normal range of anion gap b/w 10-20mEq/L
1) Diabetic ketoacidosis 2) Heart Failure 3) Prolonged lack of oxygen (lactic acidosis)
What are the major ways that the body regulates pH? List the main two respiratory mechanisms.
- Exhilation of CO2 will raise the pH as less free hydrogen ion are available. 2. Excretion of ammonium (NH4+)through pee raise the pH.
What does is mean for a saline solution to be designated as D5?
5% Dextrose. Do not give to a diabetic patient.
What enzyme is responsible for the conversion of CO2 + H20 to H2CO3 (Carbonic acid)?
carbonic anhydrase
What is isotonic saline given to dehydrated patients instead of water?
To match the body fluid osmolality and not make cells explode from trying to match the concentration gradient.
What is metabolic acidosis and what does it cause?
___________ is caused by a decrease in bicarbonate concentration and thus lowers the pH.
What is respiratory acidosis and what can it be caused by?
_____________ is the accumulation of CO2 concentration in lungs/body which will decrease the pH. Can be caused by COPD, asthmapneumonia, and sleep apnea. (NOT BREATHING WELL)
What is the equation for the anion gap? What is the normal range?
Anion gap= (Na + K) - (Cl- + HCO3-). Normal range is 10-20mEq/L or 8-16 when K is excluded. Potassium can often be excluded due to its small concentration.
What is the Henderson-Hasselbach Equation and what is it used to find?
pH= pKa + log (base/acid)
What is the major way that carbon dioxide is created in the body?
Major by-product of the Krebs cycle
What is the name of rapid breathing caused by diabetic ketoacidosis?
Kussmaul respirations
What is the normal pH reference range of blood? What is classified as acidosis/alkalosis?
The normal pH of blood is between 7.36-7.44
Why is carbon dioxide considered acidic? How does its concentration within the body contribute to pH restoration?
C02 is considered acidic because of the rxn C02 +H20 –> H2CO3 –> HCO3- + H+. Therefore due to equilibrium shift when more CO2 is concentrated inside the body it causes more hydrogen cation to be dissociated from carbonic acid, thus significantly lowering the pH. Breathing rapidly released CO2 from the body; thus lowering its concentration AND increasing the pH.
What is the protoplasm? What is it composed of?
The nucleus and cytoplasm, NO MEMBRANES. It is composed of 1) water (80-90%) 2)ions 3) proteins 4) lipids carbohydrates
What is the roles of chromosomes inside the nucleus?
They house the primary genetic material
What are two unique features of the nucleus membrane?
1) It is a 2-layer membrane that is a continuation of the rough endoplasmic reticulum 2) It is very holy, with lots of “protein based pores” that assist with communication.
1) What is Emery-Dreifuss Muscular Dystrophy? 2)What type of genetic inheritance does it display? 3)What mutation is responsible for the disease? 4) What are symptoms of those affected with this disease? 5) What is a common organ that is affected?
_____________ is an X-linked dominant disease of the nuclear envelope that is caused by a mutation in the EMERIN (EMD) and the LAMININ (LMNA), which are both part of the nucleoskeleton membrane. These mutations disrupt the communication between the nucleus and the cytoplasm. This disease specifically affects STRIATED/INVOLUNTARY MUSCLES. Common symptoms are dilated cardiomyopathy, limb-girdle muscular dystrophy, stiff muscles, progressive muscle weakness and wasting. It also causes the walls of the heart to weaken and the chambers to enlarge; difficult to pump blood volume (leads to heart failure). Different from duchenne muscular dystrophy.
1) What is Progeria? 2)What mutation is responsible for the disease? 3) What are symptoms of those affected with this disease? 4) What is a common organ that is affected to cause death?
_________ is a nuclear envelope disease caused by a mutation in the laminin A,C gene. Specifically, this disease prevents the organization of chromatin during mitosis (growing stage). Symptoms of childhood onset of premature aging, growth inhibition, baldness, osteoporosis, arthritis. Eventually most patients die of cardiovascular complications in teenage years.
1) What is Restrictive Dermopathy? 2)What mutation is responsible for the disease? 3) What are symptoms of those affected with this disease?
__________ is a nuclear envelope disease caused by a mutation of laminin gene (A,C ZMPSTE24) which causes RIGED TRANSLUCENT SKIN, pulmonary hypoplasia (underdevelopment), impaired movements.
What is a unique feature of the nucleolus that is not shared by any other organelle?
It has no membrane.
What is the role of the nucleolus.
The _______ is responsible for transcription of the genes for rRNA. The small and large subunits of the ribosomes are also completely translated in the ______, and then transported to the cytoplasm.
An enlarged nucleolus is an indicator of what type of cell?
Malignant tumor cells (they produce large amounts of proteins/ribosomes)
What is the size of the human ribosome? What is the size of its component parts, large and small subunits?
This ribosome is 80s total; composed of 60s and 40S.
What is the first step of translation for every protein?
The association between MET-tRNA and the small 40S ribosome subunit. It attaches to the 5’ end.
What enzyme mediates the formation of peptide bonds in translation?
peptidyl transferase (housed in 60S subunit)
What is the size of the bacteria ribosome? What is the size of its component parts, large and small subunits? Why is this advantageous for us in medicine?
Ribosome with 70S total; 50S and 30S. Can be targeted by a number of antibiotics.
What are ribosome-associated-particles (RAP) and where are their jobs?
____________ recognize labeling sequences of specific proteins and shuttle these proteins to specific docking sites on the RER. Docked proteins are then sent through the pores INSIDE the RER where further modifications take place including glycosylation.
Where are the majority of proteins produced?
In the ribosomes attached directly to the RER membrane.
What happens to proteins after they have been shuffled through RER by the help of ribosome associated proteins (RAP)?
Proteins will become glycosylated inside RER and are transported into the lumen of smooth ER (also known as transitional ER)
What happens to unlabeled proteins not recognized by RAP?
They stay on the outside of the RER and remain in the cytosol.
What happens to proteins after they are shuttled into the smooth ER? Do any other modifications of proteins take place?
Proteins bud off on the TRANS side of the smooth ER in TRANSPORT VESICLES and fuse with the CIS side of the Golgi apparatus. Modifications occur to the cis, trans, and medial cisternae oligosaccharide chains.
What happens to proteins after all modifications have been made inside the Golgi apparatus?
Processed glycoproteins then bud off the trans portion of the Golgi apparatus in SECRETORY VESICLES. These secretory vesicles will travel to predetermined sites.
Fragmented Golgi apparatus can be found in cells of what common disease?
Alzheimer disease patients demonstrate this type of modification inside their neurons. Pathological changes in this structure have also been identified in Huntington’s and Parkinson’s disease.
What are the main functions of the smooth ER? List 4.
1) Storage of calcium 2) Secrete proteins in transport vesicles to GA. 3) Involved in LIPID metabolism 4) Produce detoxifying enzymes
IP3 acts as a secondary messenger in the release of ______ from _________.
Calcium; smooth ER
What do Asp and Asn stand for?
Aspartate & asparagine respectively
What do Glu and Gln stand for?
Glutamate & Glutamine respectively.
What is Maple Syrup Urine Disease
This disease is caused an inability to catabolize branched-chain amino acids such as Leu, Ile, Val. (I Love Vermont) Since the enzyme ________ is missing to break down BCAAs, neurotoxicity buildup develops in bloodstream- untreated patient will suffer from mental retardation and high mortality rate. Treatment is to have diets that have low concentrations of BCAAs.
What is the missing/deficient enzyme in Maple Syrup Urine Disease?
[branched-chain alpha-keto acid dehydrogenase] is the missing enzyme in this disease
What is the missing enzyme in PKU or phenylketonuria?
this is a disease caused by a deficiency of phenylalanine hydroxylase
What is PKU or phenylketonuria?
____ is a disease caused by the inability of phenylalanine to be converted to tyrosine. thus phenylalanine buildup causes neurotoxicity and will lead to mental retardation if left untreated. Treatment for this disease is a diet that avoids phenylalanine.
What amino acid serves as the precursor for serotonin?
tryptophan is the precursor for _________
What is SERCA pump?
It is the pump in the smooth ER that is responsible for pumping Ca2+ against it concentration into the sarcoplasmic reticulum (important for cardiac contraction)
What are clathrin coated pits?
involved in CME; multiple monomers of this substance congregate on the interior cellular membrane I response to a signal from receptor protein and help mediate entry into the cell (growth factors, receptors). Form basket around cargo. Depolymerization and formation of endosome occurs as acidification of vesicles occurs. pH continues to drop as one vesicle joins up with multiple other vesicles. Lysozymes are also added from Golgi vesicles but will only function at very low pH.
What is caveolae?
a multipass integral protein involved in transcytosis (for your neighbor)
What is the function of lysozymes and how do they do it?
____ responsible for degredation of endycytosed material or phagotosized material. Contain of 40 different types of hydrolytic enzymes, hydrolase being the primary one. Hydrolases are originally produced in the RER then sent to the Golgi body which and a sugar, then send it to the lysosomes.
What is Tay-Sachs Disease? What enzyme is it missing? What are the symptoms?
______ disease is caused by the congenital absence of the enzyme HEXOSAMINIDASE A (a lysosomal hydrolase). As a result way to much GM2 GANGLIOSIDE accumulates inside the lysosomes and causes symptoms such as 1) neurodegeneration 2) developmental delay 3) cherry red spot on macula 4) lysosomes with onion skin 5) DOES NOT EXHIBIT HEPATOSPLENOMEGALY(enlargement of liver and spleen)
What is Nieman-Pick Disease? What enzyme is it missing? What are the symptoms?
_______ is caused by the congenital absence of the enzyme SPHINGOMYELINASE (a type of lysosomal hydrolase). As a result sphingomyelin accumulates in lysosome. Can cause 1) Neurodegeneration 2)Foam cells (fat laden macrophages, indication of plaque buildup 3) Cherry-red spot on macula 4) hepatoslenoMEGALY
What is Gaucher Disease? What enzyme is it missing? What are the symptoms?
_______ is caused by the congenital absence of the enzyme GLUCOCEREBROSIDASE (a type of lysosomal hydrolase) which prevents the breakdown of glucocerebroside in lysosome. This can cause 1)Pancytopenia (reduction in RBC, WBC and platelets) 2) Necrosis of the femur 3) bone crisis 4) _______cells 5) Lipid-laden macrophages 6) heptosplenoMEGALY
What are the roles of peroxisomes? What is are their primary class of enzyme?
this organelle is involved with “cell cleaning”. Its involved with 1) oxidation of cellular lipids 2) beta oxidation of fatty acids, 3)reduction of free radicals (hydrogen peroxide to water). This organelle contains CATALASES which convert hydrogen peroxide to water. 4)Also house enzymes involved in the pentose 5 pathway (energy metabolism) 5) important for the SYNTHESIS of phosolipd-plasmalogen (plasmalogen makes of 50% of hearts phospholipids and 85% of ethanolamine in myelin (brain tissue)
Zellweger Syndrome (Cerebrohepatorenal syndrome)
this is a peroxisomal disease caused by the absence of functional peroxisomes inside the cell. It is an autosomal recessive disorder that causes impaired neuronal migration and HYPOmyelination, which leads to progressive loss of hearing AND vision. Other symptoms include 1) cranial deformities 2)chondrodysplasia punctate 3) hypotonia (floppy baby syndrome) 4) seizures 5) apnea this disease usually causes death before 6 months old
ATP synthase
allows protons to come back into matrix form outer membrane, energy is captures to form ATP
What is Leber’s Hereditary Optic Neuropathy
a syndrome that has point mutations on genes that encode for mitochondrial oxidation proteins. This disease effects young males primarily and causes degeneration of retinal ganglion cells (optic nerve atrophy) eventually leading to loss of vision in both eyes (8 weeks separated), Mother is the carrier of this gene (MITOCHONDRIA)
Myoclonic Epilepsy w/ Ragged Red Fibers
a syndrome that has point mutations on genes that encode for mitochondrial oxidation proteins. Symptoms include myoclonus (involuntary jerking of muscles), seizures, dementia, optic atrophy, neuropathy, arrhythmias. Usually multiple symptoms present at the same time. Mother is the carrier of this gene (MITOCHONDRIA)
How does cyanide kill you? What is an indirect way to get cyanide poisoning?
This toxin blocks all production of ATP by binding to cytochrome a3 subunit in oxidative phosphorylation of Krebs cycle. Causes death in about 6-8 minutes from cardiac arrest.
A patient presents with faintness flushing, perspirations, and hypernea (rapid breathing) and being involved in a house fire. What is a probable diagnosis and what is the treatment?
Mild cyanide poisoning. S.A.S Treatment includes: 1)sodium nitrite 2)amyl nitrite 3)sodium thiosulfate these drugs will convert cyanide into thiocyanate, which is significantly less toxic substance
osteogenesis imperfect
a disorder caused by the replacement of glycine by another more bulky amino acid in the formation of cartilage (and ultimately bone). Symptoms include blue (translucent) sclera, hearing loss due to funky middle ear bones, dental imperfections. -type I can often be mistaken for child abuse -type 2 cause prenatal death
What are the 2 (or 3) positively charge amino acids. List them.
1) Lysine (pka=10.5) 2) Arginine (pka=12.5) 3) sometime histidine (pka=6)
What are the 2 negatively charged amino acids?
1) Aspartic acid (aspartate) pka= 3.9 (ASP) 2) Glutamatic acid (glutamate) pka = 4.3 (GLU)
What are the 6 uncharged polar amino acids?
S.T.A.T.GC Serine Threonine Asparagine Tyrosine Glutamine Cysteine
These 3 amino acids can be used for N or O glycosidic linkages.
1) threonine 2) serine 3) asparagine glyosidic bond is helpful for the formation of glycoproteins, these are helpgul for Cell surface recognition etc.
______ is a precursor for synthesis of catecholamines such as dopamine, epinephrine, and norepinephrine.
Tyrosine
What are the 4 main interactions involved with tertiary protein structure?
1) disulfide bonds (cysteine) 2) hydrophobic interactions 3) hydrogen bonds 4) ionic bonding (can only occur between two amino acids that are BOTH fully charged)
What is sickle cell anemia?
___________ is a blood disorder caused by a mutation on RBC that changes GLUTAMATE to VALINE. That changes to lifespan of the RBC from 120 days to ~20 days. Symptoms include episodes of pain (due to anoxia in capillaries) , chronic hemolytic anemia, and hyperbilirubinemia. Infected RBCs will also not travel as far on electrophoresis due to loss of negative charge from glutamate.
What are some common functions of glycolipids?
1) cell to cell interaction (cell receptor) 2) receptors for certain toxins 3) acts as antigens for different blood types
Transmembrane proteins usually have what type of secondary structure included in them?
Alpha helices
What are the two types of phospholipids found on the OUTER membrane?
1) phosphatidylcholine 2) sphingomyelin (Nieman-Picks Disease)
What are the three types of phospholipids found on the INNER membrane?
1) phosphatidylserine (memory!) 2) phosphatidyllethanolamine 3) phosphatidylinositol DRINK SUGARY PROTEINS, but they will kill you
What type of molecules need to be transported into cell using channel-mediated diffusion?
Small lipid insoluble substances
How does the Potassium (K+) channels work?
contain a tetrameric structure with a specific PORE LOOP that act as feelers to identify K+ specifically. Carbonyl oxygen then removes water from K+ and conformation change allows entrance into cell.
What effect does Fugu fish toxin (puffer fish) have on the cell and what symptoms does it cause?
this toxin blocks the voltage gated Na+ channels and prevents them from working. Without these voltage gated sodium channels, muscles contration is impossible, so it leads to paralysis. IT IS A SALT WATER FISH. IRONIC?
What are two of the unintended effects of the Na+/K+ pump?
1) It dries out cell b/c water follow sodium and positive charge to the outside of the cell. 2) it creates about 80% of the heat in your body
What is the job of topoisomerase I?
This enzyme relieves the supercoiling of DNA caused by helicase by making a nick on one strand. Involved in both the cutting and the reanealing of DNA.
What is familial hypercholesterolemia? What causes it? What are the symptoms? What is the difference between recieving a homozygous and heterozygous copy of the genetic disorder?
This disease is the result in the mutation or absense of the LDL receptor on the surface of the cell membrane. The LDL receptor is involved with the absorption and destuction of LDL. This mutation/absense causes excessive build of LDL which leads to HIGH cholesterol levels.
Symptoms include
- xanthomas (lipid deposits on skin)
- heterozygous inheritance will lead to MI in adolescence
- homozygous inheritance will lead to MI in childhood
What is a symport/cotransport? It it a passive or active transport? Give an example of a symport/co-transport.
A ______ is a type of mebrane protein that utilizes the concentration gradient formed by the Na+/K+ pump to serve it’s purpose of sneaking a desired compound into the cell along with an ion flowing down it’s concentration gradient. Both substances entering the cell require the binding of a carrier protein. For the reason a _________ it consider an example of secondary active transport. An example of this is glucose/AA/Na+
What is a antiport/counter transport? It it a passive or active transport? Give an example of a antiport/counter transport.
A ______ is a type of mebrane protein that utilizes the concentration gradient formed by the Na+/K+ pump to serve it’s purpose of performing a “classic switchero”; and therefore is consider a type of secondary active transport. A carrier protein is required for this switchero. An example of this is Na/H/Ca Counter transport. (dont need to know this example)
What are the roles of selectively permeable channels? What bodily functions do they help perform? Give two example of selectively permeable channels.
There are two main types of ________.
- Voltage-gated channels
- chemical/ligand gated channels
Both of these _________ response to changes in the environment to let SPECIFIC types of molecules into/out of the cell. Two example are the Voltage-gated Na+ channels (think fugu/puffer fish) and Ligand-gated K+ channels (think tetrameric structure,pore loops (feel potatoes), dehydration), which are important for signaling between neurons, and activation of muscles cells
Finding this type of phospholipid on the OUTER layer of the cell membrane will trigger apoptosis.
phosphatidylserine
What is Wilson’s Disease? What type of disease is it classified as? What causes it/gene affected? What are the symptoms? What is its genetic inheritance?
This disease follows a autosomal recessive inheritance (mutuation on ATP7B gene causes defect of copper-dependent ATP-ase) cells can not secrete copper out of cells, symptoms are caused by excessive buildup of copper (CNS, kidneys, eyes, liver). Classified as a cell membrane disease.
happens in active hepatitis, liver fibrosis, and cirrhosis
Symptoms
- tremors
- muscle stiffness
- personality changes
- anxiety
- hallucinations
hint: (volleyball cannot get copper out of it)
What is Cystic fibrosis? What type of disease is it classified as? What causes it/gene affected? What are the symptoms? What is its genetic inheritance?
_________ results in the drying out of many bodily organs/secretions. It results from the mutation of the CFTR gene and is autosomal recessive. A mutation in the CFTR gene leads to defect in the Cl- membrane channel (CFTR protein.)
Symptoms include
- production of abnormally think secretions in the GI, pulmonary system
- salty-tasting skin
- difficulty breathing, coughing up mucus, pulmonary infections
- pancreative, liver, and renal insufficiency
- infertility in males
LOTS or ALL of these symptoms are caused because Cl- stays OUTSIDE of the cell due to broken membrane channel and pulls out its friend Na+. Water always follows (NaCl) and therefore you get many dehydrated products (alveoli, sprerm, etc)
What is one main structural difference between purines and pyrimidines?
Purines are DIcylic
Pyrimidines are cyclic
What is the difference between a nucleoside and a nucleotide?
NucleoSIDES do not have any phosphates attached to the 5-carbon sugar. ONLY sugar and nitrogenous base.
Nucleotides include phosphate groups.
What type of bond joins nucleotides together in DNA?
phosphodiester bonds
What type of bond links 5-carbon sugars to their respective nitrogenous base?
Glycosidic bonds
What is the definition of Tm for DNA?
The temperature requires to melt 50% of the DNA in a sample (high GC content equal higher Tm)
What enzyme and class of enzyme are responsible for the supercoiling of prokaryotic and mitochondrial DNA. What class of antibiotic inhibit this process? Give two examples from this class of antibiotics.
DNA gyrase is responsible for supercoiling, and it is a type of topoisomerase II.
DNA gyrase and supercoiling can be inhibited by quinolones (quit coiling!). Quinolones end in “-floxacin”
Two examples of quinilones are
- norfloxacin
- ciprofloxacin
Describe the Bohr effect in term of hemoglobin affinity.
The bohr effective states that when the physiological pH is decreased then hemoglobins affinity for oxygen will also decease. This shifts Kd to the right.
low pH/High [H+] stabilizes the T (deoxy) form
High pH/Low [H+] favors the R (oxy) form
this is helpful for oxygen unloading bc pH is lower in the muscles! yay!
