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Flashcards in Diseases for MCM Deck (52):


Usually carries out DNA repair pathways, tumor suppressant
mutuation or damage creates improper folding of BRCA protein --> not useful
patients predisposed to beat, ovarian cancer.
This protein has a-Helix


Huntingtons disease

DNA mutation leads to long (>36 glutamine residue)
Translated to long protein
Protein builds up and interferes with nerve function
Notice drop in neurotransmitter levels (GABA)
Characterized by 'boxcar' basal ganglia


Barth Syndrom

Defect in metabolism of phospholipids
Mutated TAZ gene = nonfunctional tafazz protein (which modifies lipid in mitochondrial membrane --> low cardiolipin (mito membrane lipid)
patients suffer from: exercise intolerance, growth delay, neutropenia, cardiomyopathy, and reduced life expectancy



Advanced aging syndrome
Cells express low levels/ no telomerase


Telomerase role in cancer

Telomerase has high levels of telomerase
Cells continue to divide, live for ever


Bloom's Syndrome

Deffective BLM protein (RecQ helicase)
Unable to unzip DNA for repair (predisposed to cancer)
Pateints show: premature aging, photosensitivity, red facial 'butterfly-like' rash, short stature, developmental defects.

Blooming butterfly



inherited blood disorder. Body makes abnormal Hb
one point mutation can throw off splicing mechanism


Trisomy 21

Down syndrome (extra copy of chromosome 21)

Usually from nondisjunction of oocyte formation

Growth retardation, mental disabilities

craniofacial defects

cardiac defects in 40%, usually septal defects of PDA


Trisomy 18

Edward Syndrom (extra chromosome 18)

Only 5-10 % survive first year, handful live to be 10

Clenched fists: fingers/ hands flexion

Cardiac defects, mental disability, craniofacial: low-set ears


Trisomy 13

Patau Syndrome (extra chromosome 13)

Mental disability, cardiac defects, craniofacial: cleft lip and palate, eye defects


90% die within first month, 5% live past first year


Klinefelter Syndrome

Trisomy-- XXY, 47

presence of Barr bodies (inactive male x chromosome)


Testicular atrophy, gynecomastia (develop breasts)

Usually very tall, long limbed


Triple X syndrome

Females, XXX, 47

Two barr bodies (inactive X chromosome) in cells

carrying degree of mental disability


No classical pattern of malformation



Turner Syndrome 45, X

One less copy of X chromosome, female

Paternal nondisjunction, 80%

Only monosomy compatible with life

Short, broad chest, short neck

congenital lymphedema of hands/feet

Streak gonads

Lack of secondary sex characteristic development at puberty


Cri du Chat syndrome

partial deletion of the short arm of chromosome 5

characteristic cry of the cat due to malformation of larynx

growth retardation

Mental Disability, microcephaly

Cardiac defects


Deletion 4q Syndrome

Partial deletion of long arm of chromosome 4

Growth retardation,

varying degrees of mental disability

Cleft palate

Limb abnormalities


Angelman Syndrome

Microdeletion- long arm of MATERNAL chromosome 15

Intellectual disability

puppet-like gait

Absent Speech

Prone to unprovoked periods of uncontrolled laughter


Prader-Willi Syndrome

Micro deletion- long arm of PATERNAL chromosome 15

Intellectual disability

obesity and hypotonia


Undescended testes


von Gierke disease

deficient G-6 phosphotase, GSD type I

cannot release glucose from G6P

Severe hypoglycemia, lactic acidosis, hepatomegaly (due to increase in g6P), hyperuricemia

Hyperlipidemia is secondary-- body realizes it needs another form of energy, breaks down lipids and dumps in blood.

Glycogen storage disease


Pyruvate Kinase deficiency

won't make sufficient ATP because no pyruvate

Can cause hemolytic anemia

build up of 2,3 BPG---> decreases affinity for O2


Hemolytic anemia

PK deficiency= No Heinz bodies
G6PD= Heinz bodies


Retinal Blastoma

Bad Rb gene > can't stop EIIF from turning on replication genes.
Rb is a tumor supressant
eye cancer


Characterized by?

Amyotrophic Lateral Sclerosis, thought to be cause by protein aggregates

Characterized by progressive degeneration of motor neurons.
Occurs in brainstem, brain and spinal cord

2 proteins thought to form aggregates
1. Superoxide dismutase (SOD I)- handles superoxide free radicals from mitochondria. Free radicals build up cause stress for cell and ER > cell death
2. TDP 43- Part of transcription process. Recruited when pre mRNA is going to be processed. Form occlusion granules in motor neuron and glial cells

-Aggregates inhibit Autoplagy and Ubiquitin proteosome sysetms.
-disturbance is RNA metabolism
-effect communication between neurons
-cytoskeletal defects, axonial transport dysfunction
-mitochondrial dysfunction

Causes muscle atrophy of skeletal musces


Type II diabetes (related to protein misfolding)

insulin resistance, loss of B cell function and mass

protein: Amylin (IAAP)- hormone co-localized, co-secreted, co-packaged with insulin.

Misfolded Amylin- causes dysfunction in b cells (decrease mass)
ER stress (hyperglycemia, insulin compensation...) > misfolded protein> defective folding response, defective ubiquitin... > inhibition of protein synthesis > aggregates (only takes hours or days to aggregate)

Also clogs up golgi> secretory vessels not working properly > Autophagy not working > proteins can form pores in mitochondria > trigger cell death

Amylin seems to bind to macrophages, cause inflammation


what does amylin do?

-inhibit glucagon
-delay gastric emptying
-tells brain that you are full
-cosecretion with insulin

related to type II diabetes, misfolded protein

misfolded protein can form pores in mitochondria.


Lactate Dehydrogenase deficiency

Patients cannot do moderate levels of exercise. Unable to use glycolysis to form ATP under anaerobic conditions. Because not regenerating NAD


Thiamine Deficiency with alcoholics (Wernicke-Korsakoff Disease)

Alcoholics are deficient in Thiamine

If no thiamine--> PDH does not work
Causes weakness, hypoglycemia, low ATP
DO not give i/v with glucose > will saturate system get turned to lactate > die of lactic acidosis

Ataxia (loss of control of bodily movements)
cerebral hemorrhage
memory loss



found in rat poison, pesticides, chemicals, moonshine
inhibits PDH


Lactase deficiency

symptoms- diarrhea, bloating, cramping

From osmotic and bacteria fermentation effects

#1 genetic condition of all time


Galactokinase deficiency

Cataracts early in life



Related to either Glactokinase or G16 uridyl transferase deficiency

Glactokinase not as sever (only cataracts early)


Gal 1P uridyl transferase deficiency

Galactosemia, more severe version

Early cataracts AND other symptom(s):
vomitting diarrhea after lactose ingestion
liver damage, hyperbillirubinemia
Mental retardation

depends on which tissues it builds up in.
More serious because Gal1P is tagged and can't leave the cell, brings water in and causes damage


Fuctokinase deficiency



Aldolase B deficiency

Lethargy, vomitting
Liver damage, hyperbillirubinemia
renal proximal tubule defects

No brain damage here

No early cataracts


Why is aldolase B deficiency noticed when babies start eating solids?

Because milk has lactose which is not effected in fructose metabolism. once starts solids the baby will intake sucrose and see problems.


Barbiturates, Rotenone

Rotenone is fish poison

Inhibit e- transfer from complex 1 to coenzyme Q

Cant make ATP in normal way. Bypass reactions, e- from other source to CoQ, still makes little ATP


Where and how does cyanide, carbon monoxide, and azide effect ATP production?

Cyanide binds to Fe3+ in Complex 4. Fe3+ cannot accept e to become Fe2+. This stops e flow and backs everything up.

No e flow= no H+ gradient = no ATP

Cyanide kills because no ATP is produced.

Treated by nitrite.


Where does Myxothiazol inhibit?

inhibits transfer from CoQ (UQH2) to complex 3


Where does oligomycin inbhibit?

(antibiotic) inhibits ATP synthase by binding to channel, blocking H+

Side effect of antibiotic


Pompe Disease

GSD type II

Lysosomal a14 glucosidase

cardiomegaly, muscle weakness, death by age 2


Cori Disease

GSD type III

Glycogen debranching and glycogen phosphorylase

Mild hypoglycemia, liver enlargment

Like type I but not as severe hypoglycemia


Anderson Disease

GSD type IV

Deficient branching enzyme

Liver failure causes death by age 2, immune system attacks liver, needs liver transplant


McArdle Disease

GSD type V

Deficient: Muscle glycogen phosphorylase

muscle cramps and weakness with exercise

McAdle for muscle


Hers Disease

GSD type VI

Glycogen phosphorylase deficiency

Hepatomegaly (like type I but more mild)

Hers for Hepatic


Wernicke-Korsakoff Disease

HMP Shunt pathway, genetic mutation in gene that makes transketolase

Transketolase has reduced affinity for TPP (thiamine pyrophosphate) THIAMINE is not deficient

PATH: ataxia, psychosis, confusion, brain not function properly

helped with thiamine therapy


G6PD deficiency

3 main features:
1. immunodeficieny
2. heinz bodies
3. hemolytic anemia

G6PD makes pentose phosphates in liver and NADPH which is needed:
Liver: for biosynthesis (fatty acids, cholesterol, nucleotides)
Neutrophils: need e-s to kill bacteria via superoxides.
Erythrocytes: metHb reductase uses NADH to reduce metHb to Hb (detoxify free radicals)



Thiamine deficiency affecting all 4 thiamine dependent enzymes.


Situs inversus

Organs on opposite side (Complete, or Incomplete - one organ flipped)

Could be due to:
Improper signaling during gastrulation, failure to establish L-R six
Possibly due to cilia in node directing the wrong way.

20% patients develop chronic sinusitis which is why they think this is a cilia problem


Sirenomelia (Caudal dysgenesis)

Mermaid syndrome
Failure of mesoderm production in caudal portion of embryo

lower limb hypoplasia, fusion of limbs, vertebral anomalies, renal agencies, imperforate anus, genital anomalies



tumor of germ cell origin in other places


Kartagener Syndrome

primary cilliary dyskinesia

Microtubules can't work/move. Can effect men or women.


Hydatidiform Mole

Complete mole- fertilization of an empty oocyte. Male pronucleus replicates to form diploid cell which divides.

Partial mole- poorly developed embryo, always triploid (XXX)

Secrete high levels of hCG

Persistent trophoblastic diesease- if mole not removed it can become invasive, 5% moles form caner


Amnion Problems

oligohydramnios- too little fluid (