Proteins

Question 2

Major component of the slit diaphragms between adjacent foot processes

Answer 2

Nephrin

Question 3

Basement membrane antigen responsible for classic anti-GBM antibody GN

Answer 3

Component of the non collagen domain of a3 chain of Collagen type IV

Question 4

Celiac disease is characterized by immunologic sensitivity to gluten, which contains this water insoluble protein

Answer 4

Gliadin

Question 5

Produced by fat tissue to counteract pro-inflammatory cytokines. Potential therapeutic agents for the treatment of patients with non-alcoholic fatty liver disease

Answer 5

Adiponectin

Question 6

Iron hormone produced by the liver which normally downregulates the efflux of iron from intestines and macrophages into the plasma. Levels are decreased in hereditary hemochromatosis

Answer 6

Hepcidin

Question 7

Membrane protein expressed by larger pancreatic ducts; aberrant expression affects viscosity of pancreatic secretions

Answer 7

Cystic fibrosis transmembrane conductance regulators

Question 8

Exocrine products of the pancreas are secreted as inert proenzymes except these two.

Answer 8

1. Amylase

2. Lipase

Question 9

Brush border enzyme which cleaves trypsinogen into trypsin; which then catalyzes cleave of the other proenzymes

Answer 9

Enteropeptidase

Question 10

Trypsin inhibitor secreted by acinar and ductal cells; mutations in genes encoding for this protein causes hereditary pancreatitis

Answer 10

SPINK1

Serine protease inhibitor Kazal type 1

Question 11

Proteolytic enzyme which increases sperm motility by maintaining seminal secretions in a liquid state

Answer 11

Prostate specific antigen

Question 12

This angiogenic factor is decreased in pre-eclampsia while this anti-angiogenic factor is increased.

Answer 12

Decreased VEGF

Increased sFlt1

Question 13

In Alzheimer’s disease, accumulation of this peptide in the brain initiates a chain of events that result in dementia and disease. This peptide is derived from a larger membrane protein called ___.

Answer 13

B amyloid derived from

Amyloid precursor protein (APP)

Question 14

This protein is hyperphosphorylated in Alzheimer’s and aggregate into tangles.

Answer 14

Tau protein

Question 15

Lewy body seen in Parkinson Disease is an inclusion containing ___.

Answer 15

a-synuclein

Question 16

5 - 10% of Lou Gehrig’s disease is familial, characterized by a mutations in a gene on chromosome 21 encoding a form of this enzyme.

Answer 16

Superoxide dismutase

Mutations in this gene lead to a gain-of-function phenotype that causes misfolding of protein leading to apoptosis.

Question 17

In neurofibromatosis type 1, gene (17q11.2) encoding for this protein is mutated. This protein is normally an inhibitor of the ras protooncogene

Answer 17

Neurofibromin

Question 18

In neurofibromatosis type 2, mutation in 22q1.11 leads to production of a mutant form of this tumor suppressor protein.

Answer 18

Merlin or schwannomin

Question 19

Tuberous sclerosis may result from mutations in two chromosomes which produce these two proteins which bind to one another and act as tumor suppressors.

Answer 19

TSC1 (9q34) encodes HAMARTIN.

TSC2 (16p13) encodes TUBERIN.

Question 20

How does missense mutations in the VHL gene result in adrenal pheochromocytoma and hemangioblastoma

Answer 20

The VHL protein controls angiogenesis, especially in response to hypoxia.

Question 21

In 70 - 80% of patients with DMI, antibodies against these two proteins are detected and may contribute to islet damage.

Answer 21

Insulin

Glutamic acid decarboxylase

Question 22

This protein - which is also involved in the aging process - has been shown to improve glucose tolerance, enhance B cell insulin secretion, and increase adiponectin.

Answer 22

Sirtuin (sirt-1)

Question 23

This protein is a characteristic finding in the islets of patients with type 2 DM; unclear whether is a cause or consequence of cell damage.

Answer 23

Amylin (islet amyloid protein)

Question 24

MODY-2 is characterized by mutations encoding this enzyme involved in glycolysis.

Answer 24

Glucokinase

Question 25

In DKA, insulin deficiency leads to activation of ___.

Answer 25

Hormone sensitive lipase giving rise to increased levels of FFAs, oxidation of which produces ketone bodies.

Question 26

Hereditary angioneurotic edema results from inherited deficiency of ____, yielding uncontrolled activation of the early components of the complement system.

Answer 26

C1 esterase inhibitor

Question 27

Pemphigus vulgaris is characterized by pathogenic IgG antibodies to these intercellular desmosomal proteins.

Answer 27

Desmoglein types 1 and 3

Question 28

In bullous pemphigoid, patient has IgG antibodies which react with basal cell-basement membrane attachment plaques (hemidesmosomes) where most of the ___ is located.

Answer 28

BPAG

Bullous pemphigoid antigen

Question 29

Dermatitis herpetiformis occurs in celiac disease because the antibodies directed against gliadin cross-react with ____, which is a component of the anchoring fibrils that tether epidermal basement membrane to the superficial epidermis.

Answer 29

Reticulin

Question 30

Gene is on Xp21. Large protein which attaches portions of the sarcomere to the cell membrane, maintaining the structural and functional integrity of skeletal and cardiac myocytes

Answer 30

Dystrophin

Question 31

HPP is characterized by mutations in the gene for the ___

Answer 31

Skeletal muscle sodium channel protein (SCN4A)

Question 32

HPP is characterized by mutations in a ___ channel while malignant hyperthermia is characterized by mutations in genes encoding ___ channels.

Answer 32

HPP: Na
MH: Ca