Cell injury/ Genetics intro

Question 1

Cell injury - Deficiency

Answer 1

Any lack resulting in cell injury (metabolites, chemicals, signals,
energy, etc.)

Question 2

Cell injury - Intoxication

Answer 2

Poisoning by substances that interfere with normal cellular
function

Question 3

Cell Injury - Trauma

Answer 3

Any physical injury
* Hypothermia
* Hyperthermia
* Free radicals
* Pressure
* Foreign microorganisms
* Immune action

Question 4

reversible cell response

Answer 4

Structural vs. Functional changes

Question 5

irreversible cell response

Answer 5

Apoptosis – programmed cell death

Extreme structural changes resulting in
organelle breakdown and loss of cell
integrity

Question 6

irreversible response in nucleus-
Karyolysis

Answer 6

fragment and “melt away” (degrade)

Question 7

irreversible response in nucleus-Pyknosis

Answer 7

shrink and condense

Question 8

irreversible response in nucleus- Karyorrhexis

Answer 8

fragment and condense

Question 9

hypertrophy

Answer 9

increase in cell size

Question 10

hyperplasia

Answer 10

increase in cell number

Question 11

reversible functional response

Answer 11

alternate metabolism: oxidative phosphorylation/ glycolysis

alter size: hypertrophy/hyperplasia

cell stress proteins: heat shock proteins

organelle changes

Question 12

reversible structural changes

Answer 12

plasma membrane blebbling
membrane-bound organelle changes

Question 13

Cell intoxication example: alcohol

Answer 13

1. ethanol–> acetaldehyde by alcohol dehydrogenase (ADH) after ethanol in crosses membrane to cytoplasm
2. acetaldehyde thru both mitochondria membranes and converted to Acetic acid by aldehyde dehydrogenase (ALDH)
3. Buildup of acetic acid

Question 14

Exogenous origin- biological ex

Answer 14

outside cell

mold, venom, toxins from bacteria

Question 15

Exogenous origin- nonbiological ex

Answer 15

radon, heavy metals, pesticides, smoke inhalation

Question 16

Endogenous orgin

Answer 16

cell waste not regularly removed
genetic defect
alcohol (zero order- flat line)

Question 17

primary nutrient deficiency

Answer 17

not enough nutrient- direct

Question 18

secondary nutrient deficiency

Answer 18

around, but can’t utilize nutrient
(genetic defect—> can’t use metabolic pathway)

Question 19

BRCA 1 mutation

Answer 19

encodes for proteins that help w/ DNA repair

increase risk of breast cancer 13% to about 60% (estrogen influenced cancer)

Question 20

Chris hemsworth. has two copies of

Answer 20

APOE e4
Apolipoprotein E

INCREASES alzheimer’s risk by 8-12x (earlier onset, more severe)

Question 21

Non-invasive prenatal testing

Answer 21

prenatal genetic testing
now recommended for all pregnancies

Question 22

Karyotype

Answer 22

used to
visualize an individuals genotype

Question 23

phenotype

Answer 23

outward
manifestation of genotype, a
characteristic that can be
measured

Question 24

Variable expressivity

Answer 24

Degree to which a genotype exhibits its phenotypic expression

Question 25

Persons with the same disease causing mutation may show striking
differences in clinical manifestation

Answer 25

VE

Question 26

penetrance

Answer 26

A disease either shows reduced penetrance or it does not
– Reduced or incomplete penetrance means that not everyone with a
mutant genotype will be affected

Question 27

have genetic mutation, some have disease/ some don’t

Answer 27

penetrance

Question 28

Proband

Answer 28

the affected individual
who brings the family to medical
attention, typically the first known
affected family member (arrow)

Question 29

Making a Pedigree

Answer 29

Horizontal row is a generation
– Roman Numerals for generation, Arabic numerals for
individual
– Siblings - oldest to left
– Deceased individuals have strikethrough
– Proband has arrow

Question 30

Phenylketonuria (PKU)

Answer 30

Genetic defect
rendering phenylalanine
hydroxylase inactive

Symptoms are caused by a substrate accumulation and an end-product deficiency

Question 31

Hyperphenylalaninemia

Answer 31

causes most of the clinical
manifestations of PKU

Question 32

enzyme from phenylalanine–> Tyrosine

Answer 32

Phenylalanine hydroxylase (PAH)

Question 33

PKU tyrosine leads to….

Answer 33

melanin catecholamines , protein synthesis, ketone bodies + gluconeogenesis

Question 34

PKU and gene therapy

Answer 34

restricted diet