Pathophysiology Exam 1

How many ATP molecules are made in aerobic respiration?

34 net ATP

How many ATP molecules are made in anaerobic respiration?

2 ATP Net

Aerobic metabolsim

glucose to pyruvate, enters the kreb’s cycle

anaerobic metabolism

O2 is not available. Lactic acid formed as a result

How does the sodium-potassium pump work?

3 NA ions out

2 K ions in

ATP required, active transport

Smooth ER processes

Lipids

Rough ER processes

Proteins

Golgi apparatus converts

Prohormone to hormone

Secretory vesicles are formed from

ER-Golgi system

Secretory vesicles contain

substances to be secreted by the cell

Microtubules are hollow filaments that

help with cell division and intracellular transport

Purines

Adenine and guanine

Pyrimidines

Cytosine and thymine

Transcription

DNA into mRNA

Translation

mRNA to AA sequence

Ribosomes

Made in nucleus, free float in cytoplasm

Golgi apparatus location/function

End of rough ER, packages proteins

Xanthomas

Hyperlipidemia

Lysosome function

Destroys invaders - Garbage men

Lysosomal storage diseases

Tay-Sachs

Niemann-Pick

Gaucher’s

Organelle responsible for protein synthesis

Ribosome

Plasma membrane

Phospholipid bilayer, semipermeableP

Membrane that separates ICF from ECF

Plasma membrane

Passive transport definition

High to low, no ATP required

Passive transport types

Osmosis for water

Diffusion, most common

Facilitated transport

Active transport definition

Low to high concentraiton, requires ATP

Active transport types

Vescicles (endo or exocytosis)

Protein pumps

Karyotype

Picture of the number of chromosomes, 46 is standard

Last pair on a karyotype

XX or XY, defining gender

mRNA (messenger RNA) function

carries genetic instruction from DNA to cytoplasmic organelles like ribosomes

mRNA synthesis location

inside the nucleus through splicing, 5’ capping, and polyadenylation

tRNAs are made of

70-90 RNA nucleotides

tRNA functions to

Transport free AAs to the ribosome

Triplet codon

A sequence of three RNA nucleotides on a mRNA that codes for a specific AA

Base pairs in a codon

3

Free radicals definition

superoxides formed during aerobic respiration that carry unpaired electrons, disrupting plasma membrane

DNA replicates in a ____ fashion

semiconservative, one strand to preserve

DNA vs RNA base pair

DNA has thymine, RNA has uracil

Chromosome

Formed during mitosis and meiosis, storage site for genetic material

Gene

Nucleotide sequence

Exon

Portion of genome that encodes proteins

Introns

Portion of genome that does not code for proteins

Codon definition

Set of three nucleotides that signals a specific AA

Translation, as an analogy

One language to another, the language of nucleotides to amino acids

Mitochondrial DNA is

maternal

DNA never leaves the nucleus, as it communicates via

mRNA —> rRNA —> tRNA

Xanthoams

Hyperlipidemia

Tay-Sachs

Cherry red spots on macula of retina

Fatal by 3

Chromosome 15 causing ganglioside accumulation in the CNS

Niemann-Pick disease

Deficiency in sphinogomyelinase

Type A is more severe, complete absense of

Lipids accumulate in brain, spleen, liver, lymph

Gaucher’s disease (most common lysosomal storage disease)

Accumulation of glucerebrosides in macrophages and CNS

150 gene mutations can cause

Stained pink gaucher cells

Perixisomes

Use hydrogen peroxide to break down substances

Pathognomic changes

Unique, identifying traits of known diseases

Crater like formation in stomach

Stomach ulcer

Hyperplasia

Increased size of tissue due to INCREASED NUMBER of cells

Hyperplasia examples

Maladaptive changes, keloid formation

Metaplasia

Change from one cell type to another

Metaplasia examples

GERD

Dysplasia

Deranged cell growth

Dysplasia examples

Cervix changes, checked by PAP

Neoplasia

Cancerous or benign new growth

Benign neoplasia

Organized, self limited, cells resemble normal cells, no metastasis

Malignant neoplasia

Cancerous, disorganized uncontrolled growth

Hypoxemia

Low blood O2

Hypoxia

Low tissue O2

Atherosclerosis causes

HTN

Hyperglycemia

Free radicals

Homocysteine

Hyperlipidemia

Ischemia

Organs/tissues starved for O2

Oxidative stress

Transient ischemia due to disruption of circulation

Gangrene causative agent

C. perfringens

Apoptosis

Programmed cell death

Berry aneurysm

Most common aneurysm

Formed in the circle of willis

Appears berry shaped on CTA/MRA

Kwashiokor

Hypoproteinemia characterized by moon face, thin hair, and ascites

Marasmus

Malnutrition characterized by thin hair, simain facies, loss of muscle mass

Familial Hypercholesterolemia

Autosomal dominant, p19, homo or heterozygous

Lack of LDL receptors, predisposing risk to MI

Marfan syndrome geneology

FBN1 mutation on chromosome 15. Autosomal dominant, sporadic mutation

Marfan syndrome physiology

Connective tissue disorder leading to damaged fibrillin, affecting connective tissues

Marfan syndrome risks

AD, AAA, pneumothorax. Untreated prognosis 30-40 years.

Familial Adenomatous Polyposis (FAP)

Autosomal dominant 5q21 APC mutation. Increased colon cancer risk. Requires frequent colonoscopies

Neurofibromatosis geneology

Autosomal dominant, sporadic mutations. NF1 on chromosome 17 or NF2 on chromosome 22.

Neurofibromatosis sx

Cafe-au-lait spots (dark, flat macules), optic nerve tumors, iris tumors

Neurofibromatosis dx

Genetic testing, CT, MRI, neuro exam

Ehlers-Danlos syndrome (EDS) genetics

Autosomal dominant. Mutation in 9q34.2 and 9q34.3 genes

EDS symptomology

Stretchy people due to collagen synthesis disorder. Diminished strength, skin and joint integrity.

Cystic Fibrosis Genetics

Autosomal recessive. CTFR 7q31 gene.

CF Pathophysiology

7q31 gene inhibits sodium pump, causing mucus buildup and consequential malabsorption.

CF incidence

Most common caucasian lethal inherited disease

CF Tx

Pancreatic enzyme supplement, bronchodilators, mucolytics, nutritional supplements

CF-associated deaths usually are related to

lung disease, recurrent pneumonias

Wilson’s Disease genetics

Autosomal recessive

Wilson’s Disease Pathophysiology

Copper excretion is impaired causing copper accumulation in liver and organs

Wilson’s Disease Pathognomicity

Kayser-Fleisher ring in iris of eye

Wilson disease dx and tx

Ceruplasmin levels for dx, copper chelation for tx

G6PD Deficiency genetics

X linked

Endothelin

Vasoconstrictor released from endothelium

Endothelium secretes

VEGF, NO, endothelin

Endothelium damage causes

Free radical release, Angiotensin II secretion causing HTN

G6PD pathophysiology

Lacks glucose 6-phosphate dehydrogenase, disrupting RBC functions leading to hemolysis

G6PD special considerations

Fava beans

Patients are usually anticoagulated

G6PD Dx

CBC and PBS

Prader-Wili Syndrome

Disruption/Deleiton of genes on chromosome 15.

Causes short stature, hypogonadism, low IQ

Hypothalamic dysfunction

Angelmann syndrome

Maternally transmitted, similar to PWS