Diseases For Final

Question 1

Xeroderma Pigmentosum

Answer 1

Defect in NER complex, DNA Polymerase sigma, and DNA Ligase

Question 2

Hereditary Nonpolyposis Colorectal Cancer

Answer 2

Defect in MER complex, Helicase/Endonuclease, DNA Polymerase delta, and DNA Ligase

Question 3

BRCA 1/2 Breast Cancer

Answer 3

Defect in Recombination repair of non-homologous end joining and homologous recombination repair.
Defect in MER system affecting Exonucleases and DNA Polymerase

Question 4

Cockayne Syndrome

Answer 4

Defect in transcription-coupled repair causing a stalled RNA Polymerase during transcription

Question 5

Sickle Cell Anemia

Answer 5

Changes Glu (hydrophilic) for Val (hydrophobic)

Question 6

Duchenne Muscular Dystrophy

Answer 6

Deletion to the Dystrophin gene leading to partial or non-functioning Dystrophin protein
X-linked recessive

Question 7

Breast Cancer

Answer 7

HER2 dimerization

Question 8

Glioblastoma

Answer 8

EGF receptor dimerization to create EGFRvIII

Question 9

Chronic Myelogenous Leukemia (CML)

Answer 9

Translocation of ABL gene from Chr9 to Chr22 to form BCR-ABL gene that codes for a BCR-ABL fusion protein

Question 10

Downs Syndrome

Answer 10

47XX,+21

Question 11

Klinefelter Syndrome

Answer 11

47XXY

Question 12

Turner Syndrome

Answer 12

45XO

Question 13

Patau Syndrome

Answer 13

47XX,+13

Severe developmental abnormalities with death within 1 week

Question 14

Familial Downs Syndrome

Answer 14

14:21 Translocation where a short arm is lost

Question 15

Edwards Syndrome

Answer 15

47XX,+18

Abnormal development with death within 1 year

Question 16

Prader-Willie Syndrome

Answer 16

Deletion of a paternal chromosome 15 with genomic imprinting

Short stature, hypotonia, obesity, and mild-moderate IQ disability

Question 17

Angelman Syndrome

Answer 17

Deletion of the maternal chromosome 15 with genomic imprinting
Causes severe IQ disability, seizures, and ataxic gait

Question 18

Hypophosphatemia

Answer 18

Low blood PO4 due to defective reabsorption causing a deficiency in Ca2+ absorption and producing Rickets
X-linked dominant

Question 19

Leber’s Hereditary Optic Neuropathy (LHON)

Answer 19

MtDNA defect causing degeneration of retinal ganglion cells causing acute loss of central vision

Question 20

Mitocchondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

Answer 20

Affects brain and nervous system due to lactic acidosis

Question 21

I-cell Disease

Answer 21

Defective Mannose 6-P signal, preventing lysosomal proteins from reaching the lysosome

Question 22

Ehlers-Danlos Syndrome

Answer 22

Defect in lysyl hydroxylase causing overly flexible joints that may cause intestines to rupture
Mutation in collagen synthesis

Question 23

Epidermolysis Bullosa Simplex

Answer 23

Defect in lysyl hydroxylase causing blisters on skin

Question 24

Alzheimer’s Disease

Answer 24

Misfolding/Aggregation of Amyloid Beta peptides extracellularly and Hyperphosphorylation of Tau causing intracellular neurofibrillary tangles

Question 25

Parkinson’s Disease

Answer 25

Aggregation of alpha-synuclein (AS) proteins deposited as Lewy bodies in Substantia Nigra causing reduced Dopamine

Question 26

Huntington’s Disease

Answer 26

Mutation in Huntingtin gene resulting in expansion of CAG triplet repeats causing abnormal HTT protein leading to misfolding and aggregation in Basal Ganglia cells

Question 27

Crutzfeldt-Jacob Disease

Answer 27

Misfolding of prion proteins which is transmissible to others Late stage involves mental deterioration blindness, weakness of extremities, and coma

Question 28

Acute Intermittent Porphyria

Answer 28

Porphobilinogen Deaminase defect Hepatic Porphyria that is autosomal dominant Abdominal Pain and Neurologic Dysfunction

Question 29

Congential Erythropoietic Porphyria

Answer 29

Uroporphyrinogen III Cosynthase defect Erythropoietic Porphyria that is Autosomal Recessive Causes photosensitivity — red color in urine and teeth

Question 30

Porphyria Cutanea Tarda

Answer 30

Uroporphyrinogen Decarboxylase defect Hepatoerythropoietic Porphyria which is Autosomal Dominant Most common porphyria in US causing photosensitivity

Question 31

Variegate Porphyria

Answer 31

Protoporphyrinogen Oxidase defect Hepatic Porphyria that is Autosomal Dominant Causes photosensitivity and neurologic symptoms with delayed development in children

Question 32

Type I Criggler-Najjar Sydrome

Answer 32

Complete absence of gene encoding UDP-Glucuronyl Transferase | Hyperbilirubinemia causing BR to accumulate in brains of babies producing encephalopathy (kernicterus) and brain damage

Question 33

Type II Criggler-Najjar Syndrome

Answer 33

Mutation in UDP-Glucuronyl Transferase but the gene is still there 10% enzyme activity

Question 34

Gilbert Syndrome

Answer 34

Reduced activity of UDP-Glucuronyl Transferase to 25% activity Affecting 2-10% of the population

Question 35

Hepatitis

Answer 35

Increased levels of unconjugated and conjugated BR in blood

Question 36

Primary Polycythemia (Vera)

Answer 36

Genetically low EPO w/ extra RBCs | Double total blood volume with increased viscosity

Question 37

Secondary Polycythemia

Answer 37

Hypoxia w/ high EPO and extra RBCs | Cardiac output may be abnormal

Question 38

Physiologic Polycythemia

Answer 38

High altitude adaptation w/ extra RBCs | Normal cardiac output

Question 39

Methemoglobinemia

Answer 39

Fe2+ turning to Fe3+ due to increased met-hemoglobin Leftward shift in ODC w/ decreased O2 availability to tissues Blood is chocolate-colored and Caucasian skin appears blue

Question 40

Progeria

Answer 40

Caused by a break in the nuclear lamina intermediate filaments

Question 41

Scurvy

Answer 41

Loss of cofactors Ascorbate and Iron during hydroxylation of Collagen

Question 42

Hemochromatosis

Answer 42

HFE is mutated and Hepcidin expression cannot be induced | High blood Iron content

Question 43

Megaloblastic Macrocytic Anemia

Answer 43

Large RBCs due to deficiency in Vitamin B9 and B12

Question 44

Pernicious Anemia

Answer 44

Vitamin B12 deficiency due to a lack of Intrinsic Factor

Question 45

Hereditary Spherocytosis

Answer 45

Affects Ankyrin complex and defective anchor points | Produces spherical erythrocytes

Question 46

Hereditary Elliptocytosis

Answer 46

Spectrin-Spectrin lateral bonds and spectrin-ankyrin-band 4.1 protein junctions are defective Produces elliptical erythrocytes