Lab Final Flashcards
(90 cards)
Familial hemiplegic migraine - symptoms
- migraine with aura
- temporary weakness on one side of body (hemiplegic)
- genetic/familial –> occurs in two+ people in one family
Familial hemiplegic migraine - therapy
- Cortical hyper-excitability basis vulnerability to cortical spreading depression (CSD) and migraine attacks
- novel treatments consider CSD and cortical excitability
Familial hemiplegic migraine - ion channel
Voltage-gated calcium channels
Familial hemiplegic migraine - causation
Genetic defect in one of three genes
- FHM1 –> calcium channel works incorrectly occasionally; increased NT release facilitates CSD
- FHM2 –> loss of function of Na/K-ATPase
- FHM3 –> accelerates recovery from fast inactivation of Na channels
Myasthenia gravis - symptoms
- “grave muscle weakness”
- chronic autoimmune neuromuscular disease with varying degrees of skeletal muscle weakness
Ocular myasthenia
myasthenia gravis limited to extra-ocular muscles and eyelids
generalized myasthenia
myasthenia gravis affecting limb, bulbar and respiratory muscles
myasthenia gravis - receptor
nicotinic receptors
myasthenia gravis - cause
antibodies attack muscle nicotinic acetylcholine receptor (nAchR)
OR
antibodies attack other targets like muscle specific kinase (MuSK) which indirectly reduce nAchR numbers
myasthenia gravis - therapy
- immunosuppressants
- removing antibody
- acetylcholinesterase inhibitors to manage symptoms
long QT syndrome - symptoms
- prolonged QT interval on ECG
- ventricular tachyarrhythmias, syncope, cardiac arrest, sudden death
long QT syndrome - cause
Chromosomal mutations. Most common is mutations in alpha subunit of:
- LQT1 or LQT2 (deficient potassium currents)
- LQT3 (increased sodium current)
long QT syndrome - channel
KCNQ channel - potassium channel
long QT syndrome - therapy
- beta blockers to slow heart rate by blocking effects of adrenaline
- surgery: implant pacemaker, cardioverter defibrillator, left cervicothoracic sympathetic denervation
- LQT1 and LQT2: drugs that open K channels
- LQT3:drugs that block sodium channels
cystic fibrosis - symptoms
slowed mucus clearance from airways, difficulty breathing, difficulty digesting food
cystic fibrosis - cause
- autosomal recessive genetic disorder
- genetic mutation encodes CFTR protein which causes poor Cl- and Na+ transport across cell membranes
- CFTR channel does not function normally at cell surface
cystic fibrosis - channel
- cystic fibrosis transmembrane conductance regulator (CFTR) protein codes for CFTR chloride channel
- CFTR (mainly chloride channel) has many regulatory roles including bicarbonate-chloride exchange (deficiency in bicarbonate secretion leads to collection of luminal mucins
cystic fibrosis - therapy
- hypotonic saline
- small molecule drugs that target deficits in CFTR gene
- lung transplant
- physical therapy to clear lung mucus
kidney stone - symptoms
- urinary stones formed (mainly) by calcium salts
- renal colic: intense pain, sporadic infections, renal failure, nausea, vomiting
- pain from renal colic caused by stretching, dilation, and spasm from ureteral obstruction
kidney stones - cause
mutations of renal-specific chloride channel (CLCN5) gene
- outward chloride currents reduced
- failure to regulate endosomal pH, endocytose proteins, and reabsorb calcium resulting in loss of proteins through urine and calcium build up in urinary tract
kidney stones - treatment
- drugs
- surgery: stent placement, remove stones, shockwaves
kidney stones - channel
CLCN5 channel
- loss of function in proximal tubules causes decrease in protein endocytosis and increase in protein excretion
- loss of function in thick ascending limb of Henle causes decrease in calcium reuptake
Galen - birth place and job title
Roman physician
Galen: founder of _________________ ___________________
experimental physiology