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Endocrine USMLE

Terms in this set (246)

Waterhouse-Friedrichsen Syndrome
Acute adrenal bleeding due to Meningococcus infection. Most common in kids
HVA VMA
Urine metabolites for Neuroblastoma diagnosis
Hypogonadism with anosmia, otherwise normal patient
Kallman Syndrome caused by a mutation in KAL and FGF gene with failure in GnRH neurons migration
Most common preventable cause of death
Tabaquism
Most common cause of congenytal adrenal hyperplasy
21 hydroxilase deficiency
Tissues that cannot use Ketone bodies and the reason why
1. Erythrocytes: lack of mitochondria

2. Liver: lacks the enzyme succinyl CoA-acetoacetate CoA transferase (thiophorase)
Function of Thiophorase (succinyl CoA-acetoacetate CoA transferase
Conver acetoacetate to acetoacetyl CoA
Sulfonylureas with high incidence of hypoglycemia
Glyburide and glimepiride (long acting sulfonylureas)

(Sulfonylureas act independent of glucose blood levels)
Definitions of primary and secondary amenorrhea
1. Primary: failure of menarche by age of 15

2. Secondary: hypothalamic, pituitary, ovarian, uterine or thyroid disorder
Functional hypothalamic amenorrhea

Causes and hormone pattern
Decrease in leptin inhibits pulsatile gonadotropin-release hormone GnRH release, causing:

1. Low FSH, and LH
2. Estradiol (estrogens) low levels
3. Amenorrhea
TCA cycle (citric acid, Krebs) produces:
3 NADH
1 FADH2
2 CO2
1 GTP

PER ACETYL COA = 10 ATP
Increase of estrogen activity (any reason) in thyroid hormones levels
Increase in estrogen activity raises circulating levels of tyrosine-binding globulin (TBG) causing reduction in free T3 and free T4, then:
1. Patient with normal hypothalamic-pituitary-thyroid function increases thyroid hormone production until TBG is saturated and free T3 and free T4 come back to normal levels
2. Therefore, patients remain euthyroid free T3 and free T4 are normal, but total pool of T4 and T3 is increased (bounded and free)
Effects of 17 hydroxilase deficiency
Hypertension, Hypernatremia and fenotipically female product
Effects of 5 alfa reductase deficiency
Adrogen insensitivity syndrome
Effects of the 11 alfa hydroxilase deficiency
Ambiguous genitalia with high blood pressure due to 11 deoxycorticoesterone acumulation
Effects of 21 Hydroxilase deficiency
Girls present at birth with ambiguous genitalia and boys with salt wasting síndrome
Classic Salt wasting syndrome
Severe 21 hydroxilase deficency
Girls.- Ambiguous genitalia
Boys.- Hyponatremia, Hyperkalemia, Dehydratation
Classic non salt wasting syndrome
Moderate 21 hydroxilase deficiency
Girls.- Ambiguous genitalia
Boys.- Presents in boys between 2-4 years old with premature puberty
Non classic delayed syndrome
Premature pubarche, girls with acné, hirsutism and menstrual irregularity
Aldosterone function
Acts at distal and colector tuble
- Na retention and K elimination
- Increases H secretion in kidney
- Increases blood pressure
Neonatal hypoglicemia cause
Pancreatic B cells hyperplasia with high levels of insulin
Statins
Inhibit HMG Coa reductase
- Reduces ldl
- Reduces Tryglicerides

Can cause Hepatotixicity and muscle toxicity
Ezetimibe
Block cholesterol absorption in intestine
- Reduces LDL
- Can cause hepatotoxicity with statins
Niacin
Reduces hepatic VLDL production and fatty tissue trygiceride production
Can cause hepatotoxicity or Hyperuricemia
Fibrates
Reduces tryglicerides production
- Can cause Gallstones
- Muscle toxicity
Insulin short action
Begins action between 5-15 mins
Peak 1 hour
Acts 2-4
Used for postprandial glucose control
Regular insulin
Begins 30-45 mins
Peak 2-4 hours
Acts 5-8 hours
Used for postprandial glucose control and Diabetic Ketoacidosis
NPH
Begins 2 hours
Peak 4-12 hours
Acts 18 hours
Used for basal glucose control
Glargine, detemir
Acts 24 hours
Biguanides
First line treatment for DM2
- Acts suppressing Glycerophospate dehydrogenase in the hepatic mithocondria ad reduces gluconeogenesis
Biguanids side effect
Lactic acidosis
Ask for Creatinine before prescription
Sulfonylureas
Act blocking Na K channels on the pancreatic B cells, this increpases CA uptake and Insulina secretion
Most used Sulfonylureas
Glyburide, glimepiride long acting
glipizide
Sulfonylureas side effects
Hypoglicemia, especially long acting
Thiazolidinediones
Binds to PPAR g nuclear transcription regulator, this increases periphereal tissue insulin sensitivity
Thiazolidinediones side effects
- Weight gain
- Sodium retention
- Water retention
- Congestive heart disease
GLP1 analogs
Increases glucose dependant insulin production
- Reduces glucagon
- Reduces gastric transit
- Increases saciety
GLP1 analogs side effects
Pancreatitis
Nausea
Vomiting
DPP4 inhibitors
Inhibits DPP4 enzyme that reduces GLP-1
- Increases glucose dependant insulin production
- Reduces gastric transit
- Increases saciety
DPP4 side effects
Respiratory infections
SLGT 2 inhibitors
Inhibits SLGT2 at Poximal collector tube this increases urine glucose secretion
SGLT 2 inhibitors side effects
Glucosuria and renal infections
Insulin dependant transporter
GLUT-4
Cause of hypercalcemia in patients with granulomatous diseases
PTH Independent 1- alfa hydroxilase production by macrofagues
Hydrochlorothiazide side effect
Hypocalciuric Hypercalcemia with adequate PTH feedback
Familiar Hypocalciuric hypercalcemia
Low renal and PTH sensitivity to calcium due to a mutation in CaSR that provokes an inadequate feedback
Regulator hormones for glucose in prolonged fasting
Cortisol and GH
Disease characterized by neural regression and hepatosplenomegaly in kids between 5-18 months old
Sphingomyelinase deficiency
Medial preoptic nucleuos
GnRH bigger in men
Supraoptic nucleuos
ADH magnocellular secretory neurons
Paraventricular nucleous
Oxytocin magnocellular
TRH and CRH parvocellular
Ventral dorso-median nucleuos
Somatostatin GHiH
Arcuate or infundibullar
Dopamine GHRH
Hypoketotic Hypoglicemia
Decreased fatty acid oxydation due tu an acyl CoA dhydrogenase deficiency
Enzyme that helps to produce glucose in Diabetic Ketoacidosis
Glycerol Kinase
Glycolysis

Rate limit enzyme and regulators
Phosphofructokinase-1

AMP + ADP + Fructose 2-6 Biphosphate +
ATP - Citrate -
Gluconeogenesis

Rate limit enzyme and regulators
Fructose 1-6 biphosphatase

Citrate +
AMP - Fructose 2-6 Biphosphate -
TCA Cycle

Rate limit enzyme and regulators
Isocitrate dehydrogenase

ADP +
ATP - NADH -
Glycogenesis

Rate limit enzyme and regulators
Glycogen synthase

Glucose 6-phosphate + Insulin + Cortisol +
Epinephrine - Glucagon -
Glycogenolysis

Rate limit enzyme and regulators
Glycogen phosphorylase

Epinephrine + Glucagon + AMP +
Glucose 6-phosphate - Insulin - ATP -
HMP Shunt (Pentose phosphate pathway)

Rate limit enzyme and regulators
Glucose-6-phosphate dehydrogenase G6PD

NADP +
NADPH -
De novo pyrimidine syntesis

Rate limit enzyme and regulators
Carbamoyl phosphate synthetase II

ATP + PRPP + (Phosphoribosyl pyrophosphate)
UTP -
De novo purine syntesis

Rate limit enzyme and regulators
Glutamine-Phosphoribosyl pyrophosphate PRPP amido-transferase

No +
AMP - IMP (inosine monophosphate) - GMP -
Urea Cycle

Rate limit enzyme and regulators
Carbamoyl phosphate synthetase I

N-acetylglutamate +
No -
Fatty acid synthesis

Rate limit enzyme and regulators
Acetyl-CoA carboxylase (ACC)

Insulin + Citrate +
Glucagon - palmytoil-CoA -
Fatty acid oxidation

Rate limit enzyme and regulators
Carnitine acyltransferase I

No +
Malonyl-CoA -
Ketogenesis

Rate limit enzyme and regulators
HMG-CoA synthase

No +
No -
Cholesterol synthesis

Rate limit enzyme and regulators
HMG-CoA reductase

Insulin + Thyroxine +
Glucagon - Cholesterol -
Process that needs NADPH to work
Cholesterol and fatty acid synthesis
Gluthathione antioxidant mechanism (this is important for erythrocytes while havin high oxidative stress)
Which processes are in danger with a NADPH insufficiency
Antioxidant process in the erythrocytes and reductive biosynthesis in liver and adrenal cortex
Most common cause of NADPH deficiency
G6PD deficiency
Most common presentation in G6PD deficiency
Acute hemolytic anemia
Thyroid papillary cancer pathology
Follicular hyperplasia with epithelial tall cells
Hashimoto thyroiditis pathology
Para germinal center infiltration and Hurthle cells
Queravain thyroidits pathology
Macrofagues, lymphocytic and giant cells infiltration
Which hormones have zinc finger binding domains
Thyroid hormone, steroids and fat soluble vitamines
Most common pitituary adenoma
Prolactinoma
Hypoketotic hypoglycemia with cardiomiophaty
Primary carnitine deficiency
Di George Syndrome
Caused by a 22q11 deletion that provokes a migratory failure of the third and fourth branchial pouch
Di George Syndrome manifestations
- Cleft Palate
- Mycrognatia
- Bifid Uvula
- Cardiac defects
- Thymic defects
- Hypoparathyroidism
Most common vitamin deficiency in USA
Vitamin B9 (folate)
Diseases that can cause fat soluble vitamin vitamines
Steatorrhea
Celiac disease
Cystic fibrosis
Most common vitamin deficiency in USA
Vitamin b9
Vitamin A
Retinal pigments
Differentiation of epithelial cells into specialized cells
Vitamin A deficiency
- Night blindness
- keratomalacya
- Dry skin
Vitamin A uses and toxicity
- Used to treat acne and promyelocitic leukemia

- toxicity causes nausea, vomiting, vertigo, in chronic toxicity alopecia, skin problems, pseudotumer cerebri, hepatotoxicity
Vitamin B1 function
- Acts in dehydrogenase activity
Alfa ketoglutarate dehydrogenase
Transketolase
Pyruvate dehydrogenase
Vitamin b1 deficiency
Wernicke encephalopathy
Beri beri
Vitamin b2 deficiency
Cheilosis
Corneal vascularization
Vitamine b3 (niacin)
Used to produce NAD NADP important for redox reactions
Used to treat hiperlipidemia
Vitamin b5 function
- Component of Coenzyme A
- Present in Fatty acid synthase
Vitamin b5 deficiency
- Enteritis
- Alopecia
- Adrenal insufficiency
Vitamin B6 function
Used in descarboxylation and transamination of aminoacid
- GABA
- Dopamin
- Epinefrina
- Norepinefrina
- Niacina
- Serotonina
Vitamin b6 deficiency
- Periphereal neuropathy
- Dermatitis
- Anemia
Vitamin b7 function
- Carboxylation enzymes
ex. Pyruvate carboxykase
Vitamin b7 deficiency
Common in egg whites eaters
Alopecia
Enteritis
Vitamin b9
Is present in the nitrogenous bases ADN and ARN, present in green vegetables
Vitamin b9 deficiency
Glositis
Macrocytic anemia
Megaloblastic anemia
High serum homocysteine
Drugs that can cause b9 deficiency
Methotrexate
Phenytoin
Sulfonamides
Vitamin b12
Important for DNA synthesis
Vitamin b12 deficiency
Not common
- Macrocytic Megaloblastic anemia
- Neurodegeneration
- Pareshtesias
- Homocysteine and mthylmalonic acid in serum
Vitamin C
Used in the hydroxilation of lysin and prolin in coligen synthesis
Helps Iron absorption
Vitamin C deficiency
Escorbuto
anemia
hemarthrosis
Vitamin E deficiency
Hemolytic anemia
Vitamin K
Helps maduration of factors
II
VII
IX
X
deficiency afects PT and PTT
Vitamin K deficiency in neonates
Neonatal hemorrhage with high PT and PTT and normal INR
Syndrome provoked by a decreased protein nutrition
Kwashiorkor
M- Malnutrition
A- Anemia
L- Liver
E- Edema
S- Skin lesions
Nutritional Syndrome provoked by decrease caloric ingestion
Marasmus, muscle wasting
Vitamin b3 deficiency
- Pellagra
Dementia
Diarrhea
Dermatitis
Two major processes that maintain plasma glucose levels between meals and hours
1. Glycogenolysis: is the primary source of glucose for the first 12-18 hours of fasting, until hepatic glycogen becomes depleted

2. Gluconeogenesis: after this time
Types of dehydroepiandrosterone
Type 1 produced in the postbuscent skin
Type 2 produced in genitals
Best treatment in a non hospital hypoglycemia
Intramuscullar glucagon
Diseases that can cause lipoathropy and central fat deposition
Insulin resistance
Hypertriglyceridemia
Low hdl
Antiretroviral medication
Synthesis of histone and DNA
Phase S
mRNA stop codons
UGA = U Go Away
UAA = U Are Away
UAG = U Are Gone
Mutations in DNA
according to severity
silent << missense < nonsense < frameshift
Types of DNA repair
1) Nucleotide excision uses Endonuclease, polymerase and ligase (G1 phase)

2) Base excision uses Glycosilase, endonuclease, lyase, polymerase and ligase (all de cell cycle)
Nucleosides
Nitrogenous base + a five-carbon sugar (either ribose or deoxyribose)

Purines: adenine - guanine

Pyrimidines: thymine (adenine) - cytosine (guanine) - uracil (in RNA binds to adenine)
Urea cycle disorders with hyperammonemia treatment
Arginine
Hyperhomocysteinemia megaloblastic anemia treatment
Cobalamin vitamin B12
Hyperhomcysteinemia treatment
Pyridoxine vitamin B6
Mental retardation with Megaloblastic Anemia and high orotic acid in urine
Uridine monophospate synthase deficiency
Orotic acid in urine
Uridine suplementation
Phenylketonuria treatment
Tetrahydrobiopterin (cause of disease)
Maple syrup disease treatment
Thiamine (coenzyme)
Classic Galactosemia
Autosomic Recesive
- Galactose 1 phosphate urydil transferase deficiency
Classic Galactosemia Clinical Manifestation
- Hepatomegaly
- Jaundice
- infantil cataracts
Mechanism and side effects of Statins
Mechanism: Inhibit HMG CoA reductase

Effects: hepatotoxicity and muscle toxicity
Major lipid effects of statins
<< LDL
< Triglycerides
Mechanism and side effects of Niacin
Mechanism: < fatty acids release, < VLDL synthesis, < HDL clearence

Effects: Flushing and pruritus, hepatotoxicity, hyperuricemia
Major lipid effects of Niacin
< LDL
>> HDL
Mechanism and side effects of Fibrates
Mechanism: PPAR alfa, < VLDL synthesis

Effects: muscle toxicity, gallstones
Major lipid effects of Fibrates
<< Triglycerides
> HDL
Enzymes in the cytosol
- Fatty Acid sinthesys
- Glycolisis
- PPP
- Transketolase
Celiac disease
Low Ca++ and Phospate absorbed in intestine. Provokes steatorrhea and hypocalcemia
Enzymes in mithocondria
- Carboxylation of pyruvate
- TCA
- Fatty acid oxidation
Processes in both mithocondria and cytosol
- Heme synthesis
- Gluconeogenesis
- Urea cycle
Which process is inhibited by alcohol intoxication
- Gluconeogenesis due to a decrease in oxaloacetate and pyruvate
MEN Type 1
- Hypercalcemia
- Páncreas tumor
- Pitituary tumor
MEN Type 2-a
Thyroid medullary carcinoma
Pheocromocitoma
Parathyroid hyperplasia
MEN 2-b
- Medullary thyrod cancer
- Pheocromocytoma
- Marfanoid
Glucagon function in hypoglicemia
- Increases AMPc in the liver
- Then activates proteína kinase A
- Activation of glycogen phosphorilase

Reduces Fructose 2,6 biphosphate
- This activates gluconeogensis
How are the laboratories in Klinfelter sd
High FSH LH
Depresed testosterone
Azoospermia
Patient in treatment for Graves disease and have sore throat and infection.
Suspect agranulocytosis inducen by thionamides

- Stop medicine ask for CBC with diferential white cells
Most common cause of man hypogonadism
Klinfelter Sd
Pathway used by GH
JAK-STAT pathway
G- Protein coupled receptor in membrane with adenyl cyclase activity
TSH
PTH
ADH
ACTH
G protein couples receptor with phospholypase C
Angiotensin
TRH
GnRH
phenylephrine
Intracellular receptors
Steroids
Thyroid hormone
Treatment for Sd Turner
GH
Maturity onset of diabetes of the young
Mutation in Glucokinase gene
Principal characteristic of steroids producer cells
Predominant SER
Causes of hyperglicemia induced tissue damage
- Advanced gycosilation end products
- Polyol pathway overactivity (osmotic cellular injury)
Chronic use of exogen glucocorticoids
Adrenal Atrophy and Cushing Sd
Creatine Kinasa + Hypotension, weigth gain, muscle pain, fatigue
Ask for TSH most probably a Hypothyroidism
ACTH secreting adenoma
Cushing disease
Zona fasciculata hyperplasia
Boy, Hypotonia, Ophtalmoplegia, seizures and lactic acidosis
Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase deficiency
- Pyruvate from glucose acumulation that activates lactate dehydrogenase
Treatment for pyruvate dehydrogenase deficiency
Ketotic aminoacid diet, lysine, leucine
Glucogenic aminoacids
Alanine and Serine
Enzyme that deviates the fructose metabolism into glycolisis
Hexokinase
Fatigue Pain and muscle cramps after extenuous exercise
Lactate dehydrogenase deficiency that provokes low NAD levels in muscle (anaerobic)
Responsible enzyme in aerobic glycolisis
Pyruvate dehydrogenase
Responsible enzyme in anaerobic glycolisis
Lactate dehydrogenase
Risk of letting an prolactinoma untreated in women
Osteoporosis and hypogonoadism due to los estrogen levels
Rate limit enzyme in cathecolamines synthesis
Tyrosine Hydroxilase
Regulatory hormone of epinephrine production
Cortisol

Cortisol high levels activates PNMT
Copper Reduction Test
Detects benign fructosuria
Most common cause of carbohydrate malabsorption
Lactose intolerance
Periodic acid-Schiff strain material
Positive in glycogen storage diseases
Glycogen storage disease type 1 (von Gierke)
Glucose 6 phosphatase deficiency
Von Gierke clinical manifestations
- Severe fasting hypoglicemia
- High glycogen levels
- High lactante and triglycerides
- Hyperuricemia
Glycogen storage disease type 2 (Pompe)
- Afected glycogen degradation process
- Acid alfa glicosidase deficiency
- Lysosomes with glycogen
Pompe disease manifestations
Hypotonia
Hepatomegaly
Cardiomegaly
Cori disease
Debranching enzyme deficiency
Cori disease clinical manifestations
Hypotonia, hepatomegaly

Shows limit dextrins accumulation
Mcardle disease
Myophosphorilase deficiency
Mcardle diseases manifestations
- High glycogen in muscle
- Muscle cramps
- Myoglobinuria
Process blocked in lactic acidosis
Oxidative phosphorylation
Metabolic acidosis with high anion gap causes
M- Methanol
U- Uremia
D- Diabetic Ketoacidosis

P- Propyleneglicol
I- Isoniazid/Iron
L- Lactic acidosis
E- Ethyleneglicol
S- Salicylates
Pyruvate carboxilase activator
Acetyl Coa
Nerve damage with thyroidectomy
Cricothyroid
Adrenal cortex in Cushing disease
Hyperplasia of zona fasciculata and reticularis
Autosomal dominant diseases
- Achondroplasia
- polyposis
- Li fraumeni
- Marfan
- MEN
- Huntington disease
- Familial hypercholesterolemia
- Familial hypertrygliceridemia
Autosomal recessive diseases
- Cystic fibrosis
- Albinism
- Glycogen storage diseased
- Hemochromatosis
- Phenylketonuria
- Kartsgener syndrome
- dysbetalipoproteinemia
- Chylomicronemia syndrome
- Maple syrup disease
- Defects of fructose metabolism
x linked recessive dissorders
- hemophihlia a and b
- g6pd deficiency
- ornithine transcarbamylase deficiency
- duchenne muscular distrophy
Most lethal genetic disease in caucasians
Cystic fibrosis
Cause of cystic fibrosis
- Autosomal recesive
- CFTR MUTATION
Clinical manifestation Cystic fibrosis
- salty sweat
- thick mucous
- recurrent infectoons
Cause of duchenne muscular dystrophy
X-linked
Nonsense or frameshift mutation in dystrophin gene
Clinical manifestations duchenne dystrophy
- muscle pain that begin in pelvic
Gridle and goes superiorly

- begins before 5 years
- elevated ck due to myonecrosis
Gower sign
Patient use upper extremities to get up
Most common cause of inherited autism and intellectual disability
X- fragyle syndrome
X-fragyle syndrome cause
CGG repeated trinucleotide
C- Chin
G- Giant
G- Gonads
Robertsonian translocation
Type of mutation where the long arms of two cromosomes fuse and the short arms are lost

Specially in cromosomes 13,14,15,21,22
Trisomy 21 screening
First trimester:
- High b-hcg
- low PAPP-a
- nuchal translucency and hypoplasic nasal bone

Second trimester
- low a- fetoprotein and estriol
- high b-hcg
- high inhibin A
Most common cause of genetical mental retardation
Trisomie 21
Cri du chat
Deletion in cromosome 5 short arm
Prader Willi Syndrome
Paternal gene deleted or mutated in cromosome 15

- hyperphagia
- hypogonadism
- hypotonia
- intelectual deficit
Angelman Syndrome
Maternal gene deleted or mutated in cromosome 15

- Inappropriate laughter
- Severe intelectual deficit
- seizure, ataxia
BEFORE STEP1
Study first aid page 60 (syndromes and cromosomes)
Pathway involved in glycogen synthesis, fat synthesis and translocation of GLUT 4 to cell membrane in insulin function
Phophatydilinositol 3 kinase PI3K

(glycogen synthesis by activating protein phophatase)
Insulin pathway involved in DNA synthesis and cell growth
MAP kinase pathway
Apo E function
Helps in degradation of chylomicrons, remnant, VLDL, IDL except LDL
Apo A1 function
Activates LCAT
APO C Function
Helps in VLDL and chylomicron degradation
Apo b-48 function
Helps to move cholesterol into the lymphatic
Apo b 100 function
Binds to the LDL receptor and helps to move it to the liver
Tay-Sachs disease
- Autosomal Recesive, hexoaminidase deficiency
- Neurodegeneration
- Cherry red spot
- lysosomes with onion skin
- There is not hepatospleno megaly
Fabry disease
- X related, alfa galactosidase a deficiency
- Early with
Angiokeratosis
Neuropathy
Hypohidrosis
Gaucher disease
- Glucocerebrosidase deficiency
- Most common lysosomal storage disease
- Hepatosplenomegaly
- AVN fémur
- Bone crisis
- Osteoporosis
- GAUCHER CELLS
Replication Fork
Structure within cell nucleus that breaks the H bridge between DNA strands to begin DNA replication.
Helicase
Unwinds DNA template on replication fork
Direction of DNA replication
5----3
Protein that helps to DNA elongation
DNA polymerase
Primase
Form RNA primers on which DNA polymerase can begin DNA replication
Topoisomerase II
Removal of supercoils
DNA polymerase I
Synthesis of DNA 5-3
exonuclease
removes RNA primer
DNA ligase
Joining the Okazaki fragments in lagged strand
DNA polymerase I and II
Sinthesis of DNA 5-3
Exonuclease 3-5
Enzyme related to unlimited DNA replication in cancer
Telomerase
RNA Processes that happen in nucleus
- Capping
- Splicing
- Transcript
P bodies function (cytosol)
- mRNA storage
- Have decapping enzymes, exonucleases and microRNA
Bloom Syndrome
Autosomal recessive mutation of helicase enzyme
- Microcephalia
- Mental retardation
- Fotosensitive rash
- Inmunosupression
Blotting procedures
Help to analyze and identify DNA, mRNA, proteins and DNA bounded proteins
Northern blot
- Probe Single stranded DNA or RNA
- Helps to identify RNA
Southern blot
- Probe single stranded DNA or RNA
- Helps identify DNA
Western blot
- Probe antibody
- Helps to identify proteins
Southwestern blot
- Probe Double stranded DNA
- Helps to identify DNA binding proteins
- Ex C-jun
Which is the principal difference in prokariotic and eucariotic replication
Eucariotic has multiple origins of replication
Michaelis-Menten model
Enzymatic reactions
V- Rate of reaction
S- Substrate
Vmax- Reaction speed with all the active sites saturated with substrate
Km- Substrate necessary to bind to half of the active sites 1/2 vmax
Most common protein in the body
Collagen
- Triple helicoidal structure
- Binded by H
Most common amino acid in collagen
Glycine
Inclusion cell disease
- Aut recesive
- difficult to thrive, conginitive deficit, hepatosplenomegalia
- Corneal clouding
- Restricted joint motion
I-cell disease cause
Phospotransferase enzyme deficit (phosphorilation of manose) helps to move proteins to lysosome
Muscle phosphorilase kinase activator
Ca++
helps to muscle syncronization during contraction or excersise
Vitamin b6 function in aminoacids
Transamination and descarboxilation

An amino acid gives one nitrogen to an alfa keto acid to form a new amino acid example

Glutamate gives one aminoacid to oxaloactetate to form aspartate
Components for PCR
- DNA template
- Deoxyribonucleoside triphosphate
- DNA primer
- DNA polymerase
- Buffer solution
Important diseases diagnosis with PCR
- Lymphoma and Leukemia
- Genetic diseases
RT- PCR
Uses reverse transcriptase, uses a cDNA with gene exons. Chronic myelogenous leukemia
Amino acids needed for purine sinthesys
- Aspartate
- Glutamine
- Glycine
Lesch-Nyhan Syndrome
H- Hyperuricemia
G- Gout
P- Pissed off. Mutilation, irritability
R- Retardation
T- Dystonia
Processes before mRNA leaves nucleus
- Capping
- Splicing
- poly A
P bodies function
mRNA translation regulation and degradation

Also storage
Enzymes that reverts oxidative stress
- Superoxide dismutase
- Glutathione peroxidase
- Catalase
Wobble Hypothesis
This Principle states that the 2 first nucleotides in a codon must pair with his base in watson crick way and the third can do it in a nontraditional pairing
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