Diseases

Question 1

Familial Hypercholesterolemia

Answer 1

cholesterol uptake is disrupted; defect in gene for LDL receptor; atherosclerotic plaques due to high LDL

Question 2

Zellweger Spectrum Disorders

Answer 2

defects in assembly of peroxisome; 12 genes; usually death within first year of life

Question 3

Xeroderma Pigmentosum

Answer 3

NER deficiency; sensitivity to light, more likely to get melanomas and squamous cell carcinoma; cyclobutane dimers form in the DNA

Question 4

Hereditary Nonpolyposis Colorectal Cancer

Answer 4

inherited defects in one of the alleles of the MER complex ; increased susceptibility to the cancers; one inherited means only one other is needed (2 hit hypothesis)

Question 5

Cockayne’s Syndrome

Answer 5

rare autosomal recessive; ERCC6 and ERCC8 involved in TCR; growth retardation, sensitivity to sunlight, skeletal abnormalities; dead by 20

Question 6

BRCA Genes

Answer 6

Double stranded repair problem; BRCA1 and BRCA2 are tumor suppressor genes; higher chance of all cancers especially breast

Question 7

Sickle Cell Anemia

Answer 7

missense; substitute Valine (GTG) for Glutamic Acid (GAG); alters HbA leading to rigid structure with poor O2 capacity

Question 8

Severe Duchenne Muscular Dystrophy

Answer 8

OOF deletion (frameshift) in dystrophin gene; little/no dystrophin protein; muscle wasting and death via respiratory failure

Question 9

Becker Muscular Dystrophy

Answer 9

In frame deletion (frameshift) in dystrophin gene; truncated dystrophin protein; muscle replaced with fat and fibroid, elevated creatine kinase (CK)

Question 10

I Cell Disease

Answer 10

Lysosomal storage disease (severe); defective tagging of M6P so buildup in cytoplasm; failure to thrive and developmental delays (6 months)

Question 11

Alzheimer’s Disease (AD)

Answer 11

Buildup of amyloid beta peptide (AB) plaques; Hyperphosphorylation of Tau (intracellular) both contribute

Question 12

Parkinson’s Disease (PD)

Answer 12

Aggregation of alpha synuclein (AS) protein forms insoluble Lewy bodies in dopaminergic neurons in the substantia nigra; leads to decreased dopamine available

Question 13

Huntington’s Disease (HD)

Answer 13

mutation in huntington gene leads to CAG triplet repeats; results in polyglutamine repeats and abnormal HTT protein; selective death of cells in basal ganglia

Question 14

Creutzfeldt-Jacob Disease (CJD)

Answer 14

misfolding of prion proteins; transmissible and infects normal proteins; TSEs (spongiform)

Question 15

Grave’s Disease

Answer 15

AI disorder in which TSI binds and overstimulates TSH receptors leading to increased T3 and T4

Question 16

Cholera

Answer 16

toxin binds alpha of Gs and activates continuously; adenylate cyclase on constantly making cAMP; Cl- channels open and diarrhea

Question 17

Pertussis

Answer 17

Toxin binds alpha of Gi and prevents activation; less inhibition of adenylate cyclase; too much cGMP and mucous in airway

Question 18

Turner Syndrome

Answer 18

(XO); short female, don’t ovulate (puberty); CV defects; normal intelligence (Non-disjunction)

Question 19

Klinefelter Syndrome

Answer 19

(XXY); primary hypogonadism (low T), undescended testicles, man boobs, tall, varying level of social abilities, infertile

Question 20

Down’s Syndrome

Answer 20

trisomy 21; increased risk w/ maternal age; also robertsonian translocation or mosaic

Question 21

Patau Syndrome

Answer 21

trisomy 13; perinatal death within one week; severe abnormalities

Question 22

Edward’s Syndrome

Answer 22

trisomy 18; abnormal development; most perinatal death in one year

Question 23

Prader-Willi Syndrome

Answer 23

Paternal is deleted and maternal is imprinted; behavior problems and obesity, small feet

Question 24

Angelman Syndrome

Answer 24

Maternal is deleted and paternal is imprinted; severe developmental delays; happy demeanor

Question 25

Leber’s Hereditary Optic Neuropathy (LHON)

Answer 25

degeneration of retinal ganglion cells; acute or subacute loss of central vision; Mitochondrial disorder

Question 26

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

Answer 26

affects many body systems (brain, NS, muscles), stroke and dementia, lactic acidosis; mitochondrial disorder

Question 27

Pyloric Stenosis

Answer 27

hypertrophy b/w stomach and duodenum; more common in males b/c lower threshold

Question 28

Progeria

Answer 28

Lack of ability to form nuclear lamina leads to premature aging

Question 29

Scurvy

Answer 29

Loss of ascorbate (Vitamin C) which is cofactor in hydroxylating collagen; wounds fall apart, loss of teeth etc.

Question 30

Ehlers-Danlos Syndrome

Answer 30

Caused by mutation in collagen or collagen synthesis genes; alter structure, production, or processing of collagen or proteins it interacts with; weakens the connective tissues in skin, bones, etc. (stretchy skin)