Neural Tube Defects: From a Proteomic Standpoint

Metabolites

Tania M. Puvirajesinghe¹  Jean-Paul Borg¹ 

[1] CRCM, Cell Polarity, Cell signalling and Cancer, Equipe labellisée Ligue Contre le Cancer, Inserm, U1068, Marseille F-13009, France; E-Mail:

关键词: neural tube defects;    proteomics;    planar cell polarity;   

DOI  :  10.3390/metabo5010164

来源: mdpi

【 摘 要 】

Neural tube defects (NTDs) are congenital birth defects classified according to their resulting morphological characteristics in newborn patients. Current diagnosis of NTDs relies largely on the structural evaluation of fetuses using ultrasound imaging, with biochemical characterization used as secondary screening tools. The multigene etiology of NTDs has been aided by genetic studies, which have discovered panels of genes mutated in these diseases that encode receptors and cytoplasmic signaling molecules with poorly defined functions. Animal models ranging from flies to mice have been used to determine the function of these genes and identify their associated molecular cascades. More emphasis is now being placed on the identification of biochemical markers from clinical samples and model systems based on mass spectrometry, which open novel avenues in the understanding of NTDs at protein, metabolic and molecular levels. This article reviews how the use of proteomics can push forward the identification of novel biomarkers and molecular networks implicated in NTDs, an indispensable step in the improvement of patient management.

【 授权许可】

CC BY   
© 2015 by the authors; licensee MDPI, Basel, Switzerland.