Neural tube defects (NTDs), such as spina bifida (SB) or exencephaly, are common congenital malformations leading to infant mortality or severe disability. The etiology of NTDs is multifactorial with a strong genetic component. More than 70 NTD mouse models have been reported, suggesting the involvement of distinct pathogenetic mechanisms, including faulty cell death regulation. In this review, we focus on the contribution of functional genomics in elucidating the role of apoptosis and autophagy genes in neurodevelopment. On the basis of compared phenotypical analysis, here we discuss the relative importance of a tuned control of both apoptosome-mediated cell death and basal autophagy for regulating the correct morphogenesis and cell number in developing central nervous system (CNS). The pharmacological modulation of genes involved in these processes may thus represent a novel strategy for interfering with the occurrence of NTDs.

Cecconi, F., Piacentini, M., Fimia, G. (2008). The involvement of cell death and survival in neural tube defects: A distinct role for apoptosis and autophagy?. CELL DEATH AND DIFFERENTIATION, 15(7), 1170-1177 [10.1038/cdd.2008.64].

The involvement of cell death and survival in neural tube defects: A distinct role for apoptosis and autophagy?

CECCONI, FRANCESCO;PIACENTINI, MAURO;
2008-01-01

Abstract

Neural tube defects (NTDs), such as spina bifida (SB) or exencephaly, are common congenital malformations leading to infant mortality or severe disability. The etiology of NTDs is multifactorial with a strong genetic component. More than 70 NTD mouse models have been reported, suggesting the involvement of distinct pathogenetic mechanisms, including faulty cell death regulation. In this review, we focus on the contribution of functional genomics in elucidating the role of apoptosis and autophagy genes in neurodevelopment. On the basis of compared phenotypical analysis, here we discuss the relative importance of a tuned control of both apoptosome-mediated cell death and basal autophagy for regulating the correct morphogenesis and cell number in developing central nervous system (CNS). The pharmacological modulation of genes involved in these processes may thus represent a novel strategy for interfering with the occurrence of NTDs.
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore BIO/06
English
Con Impact Factor ISI
apoptotic protease activating factor 1; beclin 1; caspase 3; caspase 9; lysosome associated membrane protein 1; protein Bax; protein bcl xl; apoptosis; autophagy; cell count; cell function; cell growth; cell selection; cell survival; disease model; functional genomics; gene control; human; morphogenesis; nerve cell differentiation; neural tube defect; nick end labeling; nonhuman; ontogeny; pathogenesis; phenotype; priority journal; protein targeting; review; vertebrate; Animals; Apoptosis; Autophagy; Cell Survival; Gene Expression Regulation, Developmental; Genomics; Humans; Mice; Models, Animal; Neural Tube; Neural Tube Defects
Cecconi, F., Piacentini, M., Fimia, G. (2008). The involvement of cell death and survival in neural tube defects: A distinct role for apoptosis and autophagy?. CELL DEATH AND DIFFERENTIATION, 15(7), 1170-1177 [10.1038/cdd.2008.64].
Cecconi, F; Piacentini, M; Fimia, G
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/32549
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