title: KIF21A mRNA expression in patients with Down syndrome.
abstract: Down syndrome (DS) is a chromosomal disorder caused by chromosome 21 trisomy and is the most frequent genetic cause of intellectual disability. The gene for the kinesin family member 21A (KIF21A), is a member of the kinesin superfamily involved in the anterograde fast axonal transport. In this study, we have evaluated the possible differential expression of KIF21A mRNA, by qRT-PCR, in peripheral blood leukocytes of DS subjects and it compared with the normal population. In the assumption that changes in KIF21A gene expression levels may affect the axonal transport and the development of the nervous system of subjects with DS. In the present case-control study, KIF21A gene expression was increased in 72.72 % of DS samples compared with normal subjects. This finding suggests that changes in the expression levels of KIF21A in DS subjects may affect the axonal transport and the development of the nervous system.
authors.affiliation: Laboratory of Cytogenetics, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy. msalemi@oasi.en.it
authors.forename: Michele
authors.initials: M
authors.lastname: Salemi
authors.forename: Concetta
authors.initials: C
authors.lastname: Barone
authors.forename: Carmelo
authors.initials: C
authors.lastname: Romano
authors.forename: Federico
authors.initials: F
authors.lastname: Ridolfo
authors.forename: Cataldo
authors.initials: C
authors.lastname: Scavuzzo
authors.forename: Rita Anna
authors.initials: RA
authors.lastname: Cantarella
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Salluzzo
authors.forename: Aldo E
authors.initials: AE
authors.lastname: Calogero
authors.forename: Corrado
authors.initials: C
authors.lastname: Romano
authors.forename: Paolo
authors.initials: P
authors.lastname: Bosco
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004314:Down Syndrome / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D005260:Female; D015870:Gene Expression / Q000502:physiology; D006801:Humans; D016547:Kinesins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012333:RNA, Messenger / Q000378:metabolism*; D055815:Young Adult
chemical_list: C119023:KIF21A protein, human; D012333:RNA, Messenger; D016547:Kinesins