Degradation of connectin (titin) in Fukuyama type congenital muscular dystrophy: immunochemical study with monoclonal antibodies.
Connectin (also called titin) is a myofibrillar elastic filament which links a thick filament to a neighbouring Z line in a sarcomere and thus contributes significantly to the elasticity of myofibrils. In a previous study, we demonstrated by Western blot analysis of the biopsied skeletal muscles using an anti-connectin monoclonal antibody that connectin was degraded extensively after 5 years of age in Duchenne muscular dystrophy (DMD), while it was degraded mildly in Becker muscular dystrophy and only minimally in myotonic dystrophy, limb girdle dystrophy, amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease. In the present study, we investigated the degradation state of connectin in Fukuyama type congenital muscular dystrophy (FCMD) by a similar method using 2 distinct anti-connectin monoclonal antibodies. In FCMD, connectin degradation began much earlier than in DMD: Definite degradation was already observed in 5-8-month-old patients. It was presumed that connectin degradation would play an important role in the myofibrillar degeneration in the early stage of FCMD.
Matsumura
K
K
Department of Neurology, Shimoshizu National Hospital, Yotsukaido, Japan.
Shimizu
T
T
Sunada
Y
Y
Mannen
T
T
Nonaka
I
I
Kimura
S
S
Maruyama
K
K
D000911:Antibodies, Monoclonal; D015153:Blotting, Western; D064211:Connectin; D005260:Female; D006801:Humans; D007120:Immunochemistry; D008297:Male; D008565:Membrane Proteins / Q000378:metabolism; D009124:Muscle Proteins / Q000276:immunology / Q000378:metabolism*; D009132:Muscles / Q000378:metabolism; D009136:Muscular Dystrophies / Q000151:congenital / Q000378:metabolism*; D011494:Protein Kinases
D000911:Antibodies, Monoclonal; D064211:Connectin; D008565:Membrane Proteins; D009124:Muscle Proteins; C577285:TTN protein, human; D011494:Protein Kinases