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Titolo:
Maternal homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects
Autore:
Shashi, V; Rickheim, A; Pettenati, MJ;
Indirizzi:
Wake Forest Univ, Bowman Gray Sch Med, Med Genet Sect, Dept Pediat, Winston Salem, NC 27023 USA Wake Forest Univ Winston Salem NC USA 27023 , Winston Salem, NC 27023 USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 1, volume: 100, anno: 2001,
pagine: 25 - 29
SICI:
0148-7299(20010415)100:1<25:MHFTCM>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEURAL-TUBE DEFECTS; METHYLENETETRAHYDROFOLATE REDUCTASE GENE; THERMOLABILE VARIANT; C677T MUTATION; SPINA-BIFIDA; PLASMA HOMOCYSTEINE; VASCULAR-DISEASE; FOLIC-ACID; PREGNANCY; HYPERHOMOCYSTEINEMIA;
Keywords:
transverse terminal limb defect; folic acid; methylenetetrahydrofolate reductase; homocysteine;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
46
Recensione:
Indirizzi per estratti:
Indirizzo: Shashi, V Wake Forest Univ, Bowman Gray Sch Med, Med Genet Sect, Dept Pediat, 300 S Hawthorne Rd, Winston Salem, NC 27023 USA Wake Forest Univ 300 S Hawthorne Rd Winston Salem NC USA 27023 A
Citazione:
V. Shashi et al., "Maternal homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects", AM J MED G, 100(1), 2001, pp. 25-29

Abstract

A common mutation, C677T, in the 5, 10-methylenetetrahydrofolate reductase(MTHFR) gene leads to altered homocysteine metabolism, and has been associated with the occurrence of neural tube defects (NTD). Administration of folic acid decreases this risk. There is also evidence that periconceptional supplementation of mothers with folic acid can decrease the risk of limb defects in the offspring. Here we describe a child with a transverse terminaldefect of one hand, whose mother is homozygous for the C677T MTHFR mutation. We suggest that homozygosity for the MTHFR mutation may be a risk factorfor transverse terminal limb defect/s by an effect mediated through altered folate and homocysteine metabolism. Further studies of mothers of infantswith limb reduction defects for the MTHFR mutation may be of help in establishing this association. A simple intervention in the form of folic acid supplementation would be protective, should an association be established. (C) 2001 Wiley-Liss,Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/09/20 alle ore 10:24:25