Metabolic syndromes and neural crest development

• Main Author: A. Berio
• Format: Article
• Language: English
• Published: PAGEPress Publications 2011-01-01
• Series: Journal of Biological Research
• Subjects: neural crest, oxidative phosphorylation, pyruvate dehydrogenase, facial-central nervous system
• Online Access: http://www.pagepressjournals.org/index.php/jbr/article/view/4496
• ISSN: 1826-8838; 2284-0230

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.