No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy (FSHD) is associated with a contraction of the D4Z4 allele on chromosome 4qter. There is also marked DNA hypomethylation of the D4Z4 allele. The DNA hypomethylation may have a central role in the pathogenesis of FSHD. Supplemental folic acid can boost DNA methylation. We evaluated the effect of oral folic acid and methionine supplementation on the methylation level of 4qter D4Z4 alleles in peripheral-blood lymphocytes of nine patients affected with FSHD and six healthy controls. Methylation levels did not change, while recommended serum-folate concentrations were reached.
van der Kooi
E L
EL
Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands. e.vanderKooi@neuro.umcn.nl
de Greef
J C
JC
Wohlgemuth
M
M
Frants
R R
RR
van Asseldonk
R J G P
RJ
Blom
H J
HJ
van Engelen
B G M
BG
van der Maarel
S M
SM
Padberg
G W
GW
D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics; D019175:DNA Methylation / Q000187:drug effects*; D019587:Dietary Supplements; D005260:Female; D005492:Folic Acid / Q000008:administration & dosage / Q000097:blood / Q000494:pharmacology*; D006801:Humans; D008297:Male; D008715:Methionine / Q000008:administration & dosage / Q000494:pharmacology*; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics* / Q000378:metabolism; D020411:Oligonucleotide Array Sequence Analysis; D010865:Pilot Projects
D004247:DNA; D005492:Folic Acid; D008715:Methionine