Important Diseases

Question 1

Alzheimer’s

Answer 1

Amyloid Beta peptide causes plaque

Tau hyperphosphorylation causes tangles

Question 2

Huntington’s

Answer 2

Huntington Gene mutation causes polyGlutamine, which misfolds protein causing basal ganglia cell death

Question 3

Parkinson’s

Answer 3

Alpha-synuclein forms Lewy bodies that block dopaminergic neurons

Question 4

Creutzfeldt-Jakob

Answer 4

Misfolding prion proteins causes Transmissible Spongiform Encephalopathy

Question 5

Sickle Cell Anemia

Answer 5

Missense mutation causes Glu -> Val
Cell collapses into sickle shape
Mutation on Chromosome 11

Question 6

Duchenne’s Muscular Dystrophy

Answer 6

Out of frame frame shift mutation

Causes defective dystrophin

Question 7

Xeroderma Pigmentosum

Answer 7

NER defects can’t fix UV Nonionizing radiation via nucleotide excision

Question 8

Hereditary Nonpolyposis Colorectal Cancer

Answer 8

MER Complex defect can’t perform mismatch excision

Question 9

Cockayne

Answer 9

Transcription coupled repair protein defect

Question 10

I cell disease

Answer 10

Defective Mannose 6 Phosphate causes lysosomal storage disease
Leads to high plasma levels of lysosomal enzymes

Question 11

Prader-Willi Syndrome

Answer 11

Paternal deletion on Chromosome 15

Causes short stature, obesity, hypotonia and mild intellectual disability

Question 12

Angelman Syndrome

Answer 12

Maternal deletion on Chromosome 15

Causes severe intellectual disability, seizures, ataxic gait

Question 13

Human Papilloma Virus

Answer 13

Strains 6 and 11 causes genital warts
Strains 16 and 18 cause cervical cancer
Prevented with screenings and gardasil vaccine

Question 14

Leber’s Hereditary Optic Neuropathy

Answer 14

mtDNA disease

Central vision loss

Question 15

MELAS

Answer 15

mtDNA disease

Lactic acidosis, stroke and dementia

Question 16

Klinefelter Syndrome

Answer 16

Variable number of X Chromosomes

Primary hypogonadism, infertility, tall stature, varied cognitive disability

Question 17

Turner Syndrome

Answer 17

XO karyotype

Short stature, no puberty, normal intelligence

Question 18

PKU

Answer 18

Example of pleiotropy

One genotype multiple phenotypes

Question 19

Cystic Fibrosis

Answer 19

Differing genotypes present with same phenotype

Question 20

Pernicious Anemia

Answer 20

Macrocytic megaloblastic anemia caused by B12 deficiency

Schilling test used for diagnosis B12 deficient diet or IF defect

Question 21

Hereditary Hemochromatosis

Answer 21

Hfe mutation causing defective Hepcidin

Causes overload of Fe that leads to organ dysfunction

Question 22

Ehlers-Danlos

Answer 22

Mutation in collagen/related proteins

Leads to weakened connective tissue, stretchy skin

Question 23

Acute Intermittent Porphyria

Answer 23

Porphorobilinogen Deaminase deficiency
Causes buildup of PBG
(Hepatic)

Question 24

Hereditary Erythropoietic Porphyria

Answer 24

Uroporphyrinogen 3 Synthase deficiency
Causes Uroporphyrinogen 1 buildup
(Erythropoietic)

Question 25

Porphyria Cutanea Vera

Answer 25

Uroporphyrinogen 3 Decarboxylase deficiency
UPG3 buildup
Most common US porphyria (hepatoerythropoietic)

Question 26

Variegate Porphyria

Answer 26

Protophyrinogen 9 Oxidase deficiency
Protporphyrinogen 9 buildup
Celebrity Porphyria: King George III, Queen Anne and Vincent Van Gogh had it
(Hepatic)

Question 27

Pre Hepatic Hyperbilirubinemia

Answer 27

Cause: hemolysis and internal hemorrhage
Effects: increased blood unconjugated bilirubin

Question 28

Intrahepatic Hyperbilirubinemia

Answer 28

Cause: poor hepatic uptake, conjugation or secretion, UDP-GT deficiency
Effects: increased unconjugated bilirubin in blood (uptake/conjugation)
increased conjugated bilirubin in urine (secretion)
Increased serum ALT/AST

Question 29

Post Hepatic Hyperbilirubinemia

Answer 29

Cause: Gall stones, obstructed bile drain, infiltration liver disease
Effects: increased blood & urine conjugated bilirubin, no urobilin in urine, no stercobilin in feces

Question 30

BRCA Breast Cancer

Answer 30

Recombination repair defect

HER2 mutation causes increased HER2