Mutation screening of melatonin-related genes in patients with autism spectrum disorders

@inproceedings{Jonsson2009MutationSO,
  title={Mutation screening of melatonin-related genes in patients with autism spectrum disorders},
  author={L. Jonsson and Elin Ljunggren and Anna Bremer and Christin T Pedersen and Mikael Land{\'e}n and Kent Thuresson and Maibritt Giacobini and Jonas Melke},
  booktitle={BMC Medical Genomics},
  year={2009}
}
One consistent finding in autism spectrum disorders (ASD) is a decreased level of the pineal gland hormone melatonin and it has recently been demonstrated that this decrease to a large extent is due to low activity of the acetylserotonin O-methyltransferase (ASMT), the last enzyme in the melatonin synthesis pathway. Moreover, mutations in the ASMT gene have been identified, including a splice site mutation, that were associated with low ASMT activity and melatonin secretion, suggesting that the… CONTINUE READING
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