Rett syndrome : The current status of neurochemical research and the future perspectives

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  • Yamashita Yushiro
    Department of Pediatrics & Child Health
  • Hara Munetsugu
    Department of Pediatrics & Child Health
  • Takahashi Tomoyuki
    Cognitive and Molecular Institute of Kurume University, Kurume University School of Medicine
  • Matsuishi Toyojiro
    Department of Pediatrics & Child Health Cognitive and Molecular Institute of Kurume University, Kurume University School of Medicine

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  • Rett 症候群の病態に関する神経生化学的研究
  • Rett ショウコウグン ノ ビョウタイ ニ カンスル シンケイ セイカガクテキ ケンキュウ

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Abstract

We reviewed on the current status of research on Rett syndrome (RTT) and neurochemical abnormalities in neurotransmitters, neuromodulators and other biological markers in patients with RTT. We have previously investigated the levels of various factors in the blood, plasma, and cerebrospinal fluid of RTT patients, including biogenic amines, lactate, pyruvate, citric acid cycle intermediates, melatonin, substance P, and β-phenylethylamine. Among these factors, an alternation of the levels of monoamines or their metabolites has been repeatedly reported. Other CSF factors such as a reduction of NGF and substance P have been reported, which might explain some clinical features of RTT. We also discussed the possible role of plasma ghrelin in RTT and presented the results of our mouse study of the MECP2-null mutation using ES cells. Finally, we considered the potential for future analyses using our recently developed iPS cell system and discuss the future perspectives for the treatment and management of this developmental disorder.

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