[Effect of maternal paternal transmissions on clinical manifestations of CTG repeat on myotonic dystrophy].
The increasing size of the CTG repeat in successive generations is considered to the molecular basis for anticipation in DM. Maternal offspring show severe clinical manifestation than paternal transmitted offspring. The intergenerational amplification of this repeat is influenced by the sex of the parent transmitting mutant allele, in that a greater average intergenerational amplification is seen on maternal transmission. Also in the severest form of CDM almost exclusively transmitted maternal allele, the number of repeats is generally higher than that seen in non-CDM. But whether the unknown another maternal factor influence defined children having large mutant allele from mother is important question. The parental bias based on the different methylation patterns, mitochondria genome or different expressions of mRNA species are unlikely. The maternal effect might be explained the differences of the expressions of mRNA according to alternating splicing. And intrauterine effect, chromosomal imprinting or other unknown maternal factors have been expected to be involved in the pathophysiology.
Eguchi
I
I
Department of Neurology, Shinrakuen Hospital.
Tsuji
S
S
D000483:Alleles; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D009154:Mutation; D009223:Myotonic Dystrophy / Q000151:congenital / Q000235:genetics*; D011247:Pregnancy; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012720:Severity of Illness Index; D018911:Trinucleotide Repeats
D012333:RNA, Messenger