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. Author manuscript; available in PMC: 2017 Jul 6.
Published in final edited form as: Neurosci Biobehav Rev. 2014 Feb 15;46(Pt 2):228–241. doi: 10.1016/j.neubiorev.2014.02.003

Table 1.

Summary of evidence suggesting involvement of group-I mGlu receptors in syndromic and non syndromic form of ID/autism.

Disease Gene OMIM number Model mGlu1/5-LTD Signalling pathways to protein synthesis mGlu1/5 receptors proteins expression References
Fragile X syndrome FMR1 #300624 Fmr1 KO mouse ↑ mGlu5-LTD 1 (hippocampus), ↑ mGlu1-LTD (cerebellum),2 ↓ mGlu5-LTD (eCB dependent, ventral striatum and prefrontal cortex),3 ↑ mGlu5-LTD (eCB dependent, striatum)4 ↑ mTOR (basal),5–7 ↓ mTOR DHPG induced,8
- ERK (basal and DHPG induced)9 		↑ mGlu54,10,11 1Huber et al., 2002; 2Koekkoek et al., 2005; 3Jung et al., 2012;
4Maccarrone et al., 2010; 5Gross et al., 2010; 6Sharma et al., 2010;
7Busquets-Garcia et al., 2013; 8Ronesi and Huber, 2008; 9Osterweil et al., 2010;
10Lohith et al., 2013; 11Spatuzza et al., unpublished
Tuberous sclerosis complex TSC1 #191100 Tsc1 conditional KO mouse (deletion of Tsc1 in a subset of hippocampal CA1 neurons) ↓ mGlu5-LTD (hippocampus) ↑ mTOR (basal)1 ↑ mGlu12 ↑ mGlu52 1Bateup et al., 2011; 2Boer et al., 2008
TSC2 #613254 ΔRG transgenic mouse carrying a deletion and a substitution in Tsc2 which interferes with both the GAP domain and rabaptin-5 binding motif Tsc2 +/− mouse ↓ mGlu5-LTD (hippocampus)
↓ mGlu5-LTD (hippocampus)		 ↑ ERK (basal)
- mTOR
- ERK (basal and DHPG induced)		 N.D.
N.D.		 Chévere-Torres et al., 2012
Auerbach et al., 2011
Macrocephaly/autism syndrome PTEN #605309 Pten conditional KO mouse (ablation of Pten in the granule cells of the dentate gyrus, pyramidal neurons of the hippocampal CA3 and select populations of postmitotic neurons in the cortex ↓ mGlu5-LTD (hippocampus)1 ↑ mTOR (basal)2 N.D. 1Takeuchi et al., 2013; 2Kwon et al., 2006
Phelan McDermid syndrome SHANK 3 #606232 Shank knockdown (cultured hippocampal neurons) ↓ mGlu5-LTD ↓ ERK (DHPG induced) ↓ mGlu5 Verpelli et al., 2011
Obsessive–compulsive disorder SAPAP 3 #164230 Sapap3 KO mouse ↑ mGlu5-LTD (eCB dependent, striatum)1 N.D. ↑ mGlu5 (striatum)2 1Chen et al., 2011; 2Wan et al., 2011
Non-syndromic form of autism NLGN3 *300336 Nlgn3 KO mouse absent mGlu1-LTD (cerebellum) N.D. ↑ mGlu1 (cerebellum and thalamus) Baudouin et al., 2012

↑ increased; ↓ reduced; - unchanged.

eCB: endocannabinoid; DHPG: (RS)-3,5-dihydroxyphenylglycine; LTD: long term depression; N.D.: not determined.