Title |
Mutation screening of melatonin-related genes in patients with autism spectrum disorders
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Published in |
BMC Medical Genomics, April 2010
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DOI | 10.1186/1755-8794-3-10 |
Pubmed ID | |
Authors |
Lina Jonsson, Elin Ljunggren, Anna Bremer, Christin Pedersen, Mikael Landén, Kent Thuresson, MaiBritt Giacobini, Jonas Melke |
Abstract |
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 low ASMT activity observed in autism is, at least partly, due to variation within the ASMT gene. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Brazil | 1 | 25% |
United States | 1 | 25% |
Canada | 1 | 25% |
Unknown | 1 | 25% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 75% |
Scientists | 1 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Netherlands | 1 | <1% |
France | 1 | <1% |
Canada | 1 | <1% |
China | 1 | <1% |
Spain | 1 | <1% |
United States | 1 | <1% |
Unknown | 100 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 17 | 16% |
Student > Bachelor | 15 | 14% |
Student > Ph. D. Student | 14 | 13% |
Other | 9 | 8% |
Student > Master | 9 | 8% |
Other | 28 | 26% |
Unknown | 14 | 13% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 32 | 30% |
Agricultural and Biological Sciences | 22 | 21% |
Psychology | 12 | 11% |
Biochemistry, Genetics and Molecular Biology | 7 | 7% |
Neuroscience | 6 | 6% |
Other | 7 | 7% |
Unknown | 20 | 19% |