Myosin, Dynein, and Kinesin Flashcards
What does the loss of myosin function due to mutation or deficiency lead to?
Cardiomyopathy and skeletal muscle
What is the cause of myosin storage myopathy?
Formation of myosin protein clumps
How do myosin protein clumps form?
Mutations in the MYH7 gene product cardiac beta-myosin found in heart muscle and type 1-skeletal muscle fibers
What is the cause of hypertrophic obstructive cardiomyopathy?
Beta-myosin heavy chain or myosin binding protein C autosomal dominant mutations
What types of diseases is myosin involved in?
Muscular dystrophy, hearing loss, and degeneration of optic nerves
What does the kinesin protein KIFB1 deficiency cause?
Charcot Marie Tooth syndrome, degeneration of myelin sheet of motor neurons
What is the Kinesin protein KIF involved in?
Alzheimer’s
What can mutations and malfunctions in the kinesin protein KIF3 cause?
Polycystic kidney syndrome, accumulation of fluid filled cysts around the kidneys, defective ciliogenesis, defects in bronchial cilia and nodal cilia leading to Kartagener syndrome
What does mutation in the myosin motor VIIA cause?
Usher type 1B syndrome (an eye disorder)
What do mutations in dynein lead to?
Developmental and moto neuronal diseases
What is the cause of primary ciliary dyskinesia?
Mutations in the ciliary outer dynein arm heavy chain gene
What are the causes of neuronal diseases like spinal muscular atrophy and abnormal cortical development?
Mutations in the heavy chain of the cytoplasmic dynein-1
What is the cause of Lou Gehrig’s disease (amyotrophic lateral sclerosis)- characterized by progressive motor neuron degeneration and muscle paralysis
mutations in dynein/dynactin motor complex
What does SOD1 mutation lead to?
ALS
What is the cause of Kartagener syndrome?
Defect in dynein arm which impairs ciliary movement and mucus clearance, leading to respiratory problems, hearing loss, and dextrocardia situs inverses
