Difference between revisions of "Abnormal Cellular/Synaptic Growth Hypothesis"
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==Abnormal Cellular/Synaptic Growth Hypothesis== | ==Abnormal Cellular/Synaptic Growth Hypothesis== | ||
| − | This hypothesis came from studies of Tuberouse Schlerosis and Cowden/Lhermitte-Cuclos Syndromes | + | This hypothesis came about from studies on single gene disorders like fragile X where patients with the disorder have a high incidence rate. Fragile X Syndrome, for example, has a ASD prevalence rate of 15% and Tuberous sclerosis has an ASD prevalence of 25-60 percent. |
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| + | Studies of Tuberouse Schlerosis and Cowden/Lhermitte-Cuclos Syndromes found that the two syndromes associate susceptibility to [[Autism Spectrum Disorders]] with [[Macrocephaly| macrocephaly]]. [[Macrocephaly]] is relatively common among ASD patients with an estimated prevalence rate of 20%. | ||
Tuberouse Schlerosis and Cowden/Lhermitte-Cuclos Syndrome are caused by NF1, TSC1/TSC2, and PTEN. These proteins act as negative effectors of mTORC1, which is a major regulator of cellular growth in mitotic cells. It is thought that mutations enhance the MTORC1 complex which is activated by a sequential kinase cascade downstream of the phosphoinositide-3 kinase pathway. This pathway can be modulated by serotonin.<sup>1</sup> | Tuberouse Schlerosis and Cowden/Lhermitte-Cuclos Syndrome are caused by NF1, TSC1/TSC2, and PTEN. These proteins act as negative effectors of mTORC1, which is a major regulator of cellular growth in mitotic cells. It is thought that mutations enhance the MTORC1 complex which is activated by a sequential kinase cascade downstream of the phosphoinositide-3 kinase pathway. This pathway can be modulated by serotonin.<sup>1</sup> | ||
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| + | The tuberous schlerosis complex has GAP activity against GTP binding protein Rheb which results in the inhibition of rapamycin kinase (mTOR). | ||
[[Theories for Causes|Back to Theories for Causes]] | [[Theories for Causes|Back to Theories for Causes]] | ||
Revision as of 12:11, 26 October 2009
Abnormal Cellular/Synaptic Growth Hypothesis
This hypothesis came about from studies on single gene disorders like fragile X where patients with the disorder have a high incidence rate. Fragile X Syndrome, for example, has a ASD prevalence rate of 15% and Tuberous sclerosis has an ASD prevalence of 25-60 percent.
Studies of Tuberouse Schlerosis and Cowden/Lhermitte-Cuclos Syndromes found that the two syndromes associate susceptibility to Autism Spectrum Disorders with macrocephaly. Macrocephaly is relatively common among ASD patients with an estimated prevalence rate of 20%.
Tuberouse Schlerosis and Cowden/Lhermitte-Cuclos Syndrome are caused by NF1, TSC1/TSC2, and PTEN. These proteins act as negative effectors of mTORC1, which is a major regulator of cellular growth in mitotic cells. It is thought that mutations enhance the MTORC1 complex which is activated by a sequential kinase cascade downstream of the phosphoinositide-3 kinase pathway. This pathway can be modulated by serotonin.1
The tuberous schlerosis complex has GAP activity against GTP binding protein Rheb which results in the inhibition of rapamycin kinase (mTOR).
