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SUMMARY:Distal myopathies – elucidation of mechanism and development of 
 therapy - Dr Ichizo Nishino (National Center of Neurology and Psychiatry)
DTSTART;VALUE=DATE-TIME:20230619T110000
DTEND;VALUE=DATE-TIME:20230619T120000
UID:https://talks.ox.ac.uk/talks/id/936bab17-421d-411a-a044-a9d48bd8d7d9/
DESCRIPTION:I will focus on two (non-dystrophic) distal myopathies which a
 re relatively frequent in Japan: GNE myopathy and oculopharyngodistal myop
 athy (OPDM).\n\nGNE myopathy is an autosomal recessive muscle disease char
 acterized clinically by preferential involvement of tibialis anterior musc
 le and relative sparing of quadriceps\, and pathologically by the presence
  of rimmed vacuoles\, which is caused mostly by missense mutations in the 
 GNE gene that encodes a protein with the activity of two enzymes in sialic
  acid biosynthesis\, UDP-GlcNAC 2-epimerase and ManNAc kinase\, resulting 
 in the reduction of the sialic acid levels in serum and skeletal muscles. 
 So far\, 103 different mutations have been identified among 345 Japanese u
 nrelated families. We treated our model mice\, which showed a phenotype cl
 inicopathologically similar to human patients\, with ManNAc\, NeuAc\, and 
 sialic acid conjugate\, sialyllactose from around 15 weeks of age and cont
 inued to around 55 weeks. Phenotypic manifestations were almost completely
  suppressed\, indicating that sialic acid deficiency is the cause of GNE m
 yopathy and that the disease can be suppressed by sialic acid supplementat
 ion.\n\nOPDM is an autosomal dominant muscle disease which is characterize
 d by ocular and bulbar symptoms\, including ptosis\, ophtalmoparesis\, and
  dysphagia\, in addition to preferential distal limb muscle involvement. I
 t is clinicopathologically similar to oculopharyngeal muscular dystrophy (
 OPMD) which is caused by alanine codon expansions in PABPN1. Recently\, it
  was identified to be due to the expansion of the CGG repeats in the 5’ 
 UTR of LRP12. Soon after that\, similar 5’ UTR CGG repeat expansions in 
 GIPC1 and NOTCH2NLC were found to be associated with OPDM. In Japan\, majo
 rity of OPDM patients seem to have expansions in LRP12 while Chinese OPDM 
 patients those in GIPC1. I will discuss detailed clinicopathological featu
 res of OPDM_LRP12 and pathological differentiation between OPDM and OPMD.\
 nSpeakers:\nDr Ichizo Nishino (National Center of Neurology and Psychiatry
 )
LOCATION:John Radcliffe Hospital - Main Building\, Headington OX3 9DU
TZID:Europe/London
URL:https://talks.ox.ac.uk/talks/id/936bab17-421d-411a-a044-a9d48bd8d7d9/
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DESCRIPTION:Talk:Distal myopathies – elucidation of mechanism and develo
 pment of therapy - Dr Ichizo Nishino (National Center of Neurology and Psy
 chiatry)
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