BIOLOGY 2B03 Lecture Notes - Lecture 6: Vesicle Fusion, Ascending Limb Of Loop Of Henle, Nephrogenic Diabetes Insipidus

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Ligands first messengers, lead to change in conc. Of low-molecular-weight second messengers: second messengers- bind to other proteins and modify their behaviour, e. g. calcium, camp, cgmp, dag, ip3, signal transduction allows for signal amplification. Water balance regulated at nephron: osmoregulation at the nephron of the kidney, descending limb 90% permeable to water, water reabsorbed, volume of primary urine decreases and becomes more conc, ascending limb impermeable to water. Inactivating mutations: impairment/abolishing receptor function (class ii: currently 221 known adh receptor gene mutations cause xndi, misfolded receptor trapped in er, result loss of adh signal = no aqp 2 expression/transport to luminal membrane. Mechanisms of disease: nephrogenic diabetes insipidus: mutations in adh receptor lead to its absence in basolateral membrane and lack aquaporin channels in luminal membrane of collecting duct. Visualizing class ii defects of adh receptor: wild-type adh gfp receptor located at plasma membrane, gfp-mutant adh receptors located to cell interior within er.

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