Metabolic syndromes and neural crest development

Abstract

Aim of this study is to investigate for the possible connection between abnormal neural crest cell (NCC) development and NCC-derived abnormal facial and cerebral structures in 3 children with pyruvate-dehydrogenase (PDH) and in 10 cases with oxidative phosphorylation deficiency diagnosed from the Author by standard laboratory assays [i.e. 3 cases of Kearns-Sayre syndrome (KSS), 2 cases of Leigh syndrome, 1 case of KSS with De Toni-Debrè-Fanconi and rachitis (Berio disease), 1 case of KSS with aortic insuffiency and sub-aortic septum hyperthophy, 3 cases of chronic progressive external ophthalmoplegia]. There patients presented with hyperlactacidemia, hyperpyruvicemia and facial abnormalities, similar to those observed in the fetal alcohol syndrome (a typical neurocristopathy) due to PDH deficiency, down-regulating NCC genes. The Author hypothesizes that the metabolic defect of scarce energy production is responsible of abnormal NCC proliferation/migration and consequent facial abnormalities.

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Published
2011-01-30
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Abstract Book
Keywords:
neural crest, oxidative phosphorylation, pyruvate dehydrogenase, facial-central nervous system
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How to Cite
Berio, A. (2011). Metabolic syndromes and neural crest development. Journal of Biological Research - Bollettino Della Società Italiana Di Biologia Sperimentale, 84(1). https://doi.org/10.4081/jbr.2011.4496