Unit 4 Flashcards
_______ are cellular GTPases involved in mitochondrial fusion.
Mfn, OPA1
_______ are cellular GTPases involved in mitochondrial fission.
Fis1, Drp
_______ is a CFTR potentiator for G551D or gating mutation
Ivacaftor
_______ are cellular junctions that function in mechanical strength, resisting shearing forces, and promoting structural organization of epithelial sheet
Desomosomes
_______ are interlocking proteins with transmembrane domains in tight junctions
claudins and occludins
_______ are transmembrane proteins with extracellular domains that interact with each other and intracellular tails that bind adaptors and actin filaments in adherence junctions.
Cadherins
_______ are transmembrane proteins with extracellular domains that interact with each other and intracellular tails that bind adaptors and intermediate filaments in desmosomes.
Cadherins
_______ cells divide and their offspring fuse with myocytes to create cells that are even more nucleated
Satellite
_______ cilia: non-motile, variations of primary cilia to house sensory systems (taste, touch) that communicate with the CNS
Sensory
_______ cilia: organize and promote signal transduction systems that control epithelial cell division, fate, and function
Primary
_______ cilia: wave to move mucous and molecules along passageways (tend to be found in respiratory tract and oviduct)
Motile
_______ has a tyrosine kinase function that activates the Ras pathway
EGFR
_______ in the t-tubule membrane induces _______ in the SR membranes to release Caclium ions into each myofibril
DHPR; RyR
_______ muscle cells do not have gap junctions.
Skeletal
_______ promote bonw deposition; _______ promote bone resorption
osteoblasts; osteoclasts
_______ promotes calcium uptake (bone formation)
calcitonin
_______ stimulates calcium liberation (bone resorption)
Parathyroid hormone
ATP is transported out of the mitochondria via _______
ATP/ADP antiporters
Dense CT: _______ collagen fibrils that are abundant compared to ground substance
thick
In _______ muscle, Ca2+ entry from the t-tubule system is required for activation of Ca2+ release channels in the SR.
cardiac
In _______ muscle, the cells are small enough that the Calcium can diffuse from the plasma membrane relatively easy, such that the t-tubule system is not required.
smooth
In apoptosis, _______ are involved in permeabilization of the outer mitochondrial membrane to _______
Bak/Bax; cytochrome c
Integrins of _______ interact with actin filaments
focal adhesions
Integrins of _______ interact with intermediate filaments
hemidesmosomes
Loose CT: _______ collagen fibrils that are relatively sparse, arranged in _______ lattices
thin; irregular
Skeletal muscle is graded by _______ and _______
Action Potential Frequency; Motor Unit Recruitment
What are appropriate monoclonal antibody treatments for Epidermal Growth Factor Receptor (EGFR) mutations?
Cetuximab, Necitumumab
What are appropriate TKI treatments for Epidermal Growth Factor Receptor (EGFR) mutations?
Erlotinib, Gefitinib, Afatinib
What are relatively unspecialized cells that can give rise to smooth muscle during vessel growth and wound healing?
Pericytes
What is a complex of proteins in the t-tubule membrane that undergoes a conformational change during depolarization?
dihydropurine receptor (DHPR)
What is a large protein that associates with actin thin filaments to organize them?
Nebulin
What is an enormous protein that links myosin thick filaments to the Z line?
Titin
What is secreted by muscles as negative feedback for muscle growth?
Myostatin
What is the treatment for malignant hyperthermia?
Dantrolene Sodium
What middle vascular layer may be comprised of multiple layers of elastic laminae, smooth muscle cells or collagen?
Tunica Media
What pathology involvesc onstant contraction at a high rate that generates a lot of heat and metabolism very quickly?
Malignant Hyperthermia
What pathology is caused by BBS proteins involved in a protein complex required for vesicular transport within the cilium?
Bardet-Biedl Syndrome
What pathology is caused by environmental exposure to anesthesia (typically inhalation agents such as halothane or succinylcholine)?
Malignant Hyperthermia
What pathology is caused by fibrocystin mutations?
Recessive Polycystic Kidney Disease
What pathology is caused by hypertrophy of cadiac monoctyes?
Familial Hypertrophic Cardiomyopathy
What pathology is caused by large deletion (frameshift) in dystrophin?
Duchenne Muscular Dystrophy
What pathology is caused by mutation in RyR1 (70% of cases)?
Malignant Hyperthermia
What pathology is caused by polycystin 1 and polycystin 2 mutations?
Dominant Polycystic Kidney Disease
What pathology is caused by smaller in-frame deletions in dystrophin?
Becker Muscular Dystrophy
What pathology is characterized by abnormal gait with toe-walking, Gower’s sign, calf pseudoypertrophy, high creatinine kinase, mild intellectual disability, wheelchair bound in early teenage years, death in 20s, cardiomyopathy in 100% by age 18, minimal reproductive fitness?
Duchenne Muscular Dystrophy
What pathology is characterized by abnormal increase in uncalcified osteoid that interferes with mineralization?
Osteomalacia Rickets
What pathology is characterized by asymptomatic generally with sudden death in a small minority of patients?
Familial Hypertrophic Cardiomyopathy
What pathology is characterized by defect in resorption/formation coupling such that there is a net loss of bone?
osteoporosis
What pathology is characterized by hypermetabolism, skeletal muscle damage, hyperthermia?
Malignant Hyperthermia
What pathology is characterized by muscle rigidity (especially masseter spasm), increased carbon dioxide production, rhabdomyolysis (muscle cell breakdown), hyperthermia, and non-specific symptoms?
Malignant Hyperthermia
What pathology is characterized by photoreceptor degeneration, anosmia, mental retardation and developmental delays, neural tube defects, obesity, hypogonadism, kidney defects, polydactyly, diabetes, situs inversus?
Bardet-Biedl Syndrome
What pathology is characterized by renal cysts, liver and pancreatic cysts, intracranial aneurysms?
Polycystic Kidney Disease
What pathology is treated by supportive, leg braces, surgical tendon releases, pulmonary therapy, corticosteroids, ambulatory assist devices, multidisciplinary care?
Duchenne Muscular Dystrophy
What protein connects cortical actin beneath the plasma membrane and the plasma membrane surface?
Dystrophin
What releases Ca2+ ions into the myofibril?
Ryanodine Receptor (RyR)
What shunts blood from arterial circulation into venous circulation?
arteriovenous shunts
What tissue is described as containing vasa vasorum (blood vessels) that supply oxygen and nutrients to artery wall layers?
Tunic Adventitia
What tissue is described as the inner layer of the vessel and contains a layer of epithelial cells in intimate contact with blood?
Tunica Intima
What vascular structure begins in a capillary bed and ends in a capillary bed (hepatic portal vein)?
Portal system
What vascular structure connects arteries and veins and permits collateral circulation in tissues?
Anastomosis
What vascular structure is a countercurrent arrangement between an artery and venous network (spermatic cord heat exchange)
pampiniform plexus
What vascular structure supplies a section of tissue that cannot have alternate arterial supply?
End artery
