ECM, and Collagen Flashcards
Adherin junctions
Extracellular interacts with E-cadherin (Ca)
Intracellular interacts with adapter protein complex, p120 cateinin, and other cateinins
Hypotrichosis with juvenile macular dystrophy inheritance, symptoms and problem
Auto rec
Early hair loss and degeneration of central retina
Mutation of P-cadherin found in hair collicle and retinal epithelium…loss of cell-cell adhesion and/or defect in Wnt pathway signaling utilizing B-catenin
Desmosomes link
Keratins using armadillo, cadherins and plaque related proteins
Arrhythmogencic right ventricular cardiomyopathy mutations (ARVC)
Mutations in plakophilin 2, desmoplakin, and desmoglein 2
ARVC inheritance, characteristics and problem
Auto dom
Replacement of RV myocardium by fat and fibrous tissue leading to increased risk of arrythmia
Mutations in anchor proteins that link adhesion proteins to keratin
Pemphigus vulgaris characteristics, problem, and txx
Scaly, crusted lesion
May coexist with other autoimmune dzs
Antibodies against cadherin proteins (desmoglein 1 and 3)…leads to loss of cohesion amoung keratinocytes in the epidermis
Treat with corticosteroids and immunosuppressive drugs
CMT characteristics, cause and tx
Charcot-marie-tooth disease
Weakness and atrophy of lower legs…pes clavus and claw toes…later get hand weakness
X-linked involved mutation in connexin 32 that provides link between oligodendrocytes (generate myelin sheath in CNS) and nueorns
Tx is phyiscal therpay and ortho devices
DMD causes
Pseudohypertrophy…muscle tissue broken down nd replaced by fatty deposits
Dystrophin important for
Sarcolemmal stability…links cytoskeleton of each muscle fiber to basal lamina (ECM)
Disruption of subsarcollemal and extracellular matrix over time with cause
Muscles to become damaged because they repeatedly have to contract and relax
DMD symptoms
Lack of balance, hyperlordosis, pseudohypertrophy, loss of ability to walk, mental deficits
Tx of DMD
Corticosteroids, PT, braces, resp support
