MeCP2 co-ordinates liver lipid metabolism with the NCoR1/HDAC3 corepressor complex
Open accessAbstract
Rett syndrome (RTT; OMIM 312750), a progressive neurological disorder, is caused by mutations in methyl-CpG-binding protein 2 (MECP2; OMIM 300005), a ubiquitously expressed factor. A genetic suppressor screen designed to identify therapeutic targets surprisingly revealed that downregulation of the cholesterol biosynthesis pathway improves neurological phenotypes in Mecp2 mutant mice. Here, we show that MeCP2 plays a direct role in regulating lipid metabolism. Mecp2 deletion in mice results in a host of severe metabolic defects caused by lipid accumulation, including insulin resistance, fatty liver, perturbed energy utilization, and adipose inflammation by macrophage infiltration. We show that MeCP2 regulates lipid homeostasis by anchoring the repressor complex containing NCoR1 and HDAC3 to its lipogenesis targets in hepatocytes. Consistently, we find that liver targeted deletion of Mecp2 causes fatty liver disease and dyslipidemia similar to HDAC3 liver-specific deletion. These findings position MeCP2 as a novel component in metabolic homeostasis. Rett syndrome patients also show signs of peripheral dyslipidemia; thus, together these data suggest that RTT should be classified as a neurological disorder with systemic metabolic components. We previously showed that treatment of Mecp2 mice with statin drugs alleviated motor symptoms and improved health and longevity. Lipid metabolism is a highly treatable target; therefore, our results shed light on new metabolic pathways for treatment of Rett syndrome.
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MeCP2 interacts with the NCoR1/SMRT-HDAC3 complex to repress lipogenic gene transcription.
“Indeed, Kyle et al. [180] showed that Mecp2 mutant mice develop severe dyslipidaemia due to aberrant transcription of lipogenesis enzymes in the liver, because MeCP2 interacts with the NCoR1/SMRT-HDAC3 complex to repress lipogenic gene transcription.”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [180]
The Results (Figure 4) and Discussion show that hepatic MeCP2 associates with NCoR1, HDAC3, and TBLR1 and helps repress transcription at lipogenic loci. They do not show SMRT as a member of the liver complex tested here, so the SMRT-specific part of the claim is not established by this paper. (LLM, conf=0.85)
Experimental — accuracy not yet measuredMice with liver-specific deletion of Mecp2 develop dyslipidaemia, fatty liver and metabolic disease.
“Similar to Mecp2 null mice and a liver-specific deletion of Hdac3, these mice develop dyslipidaemia, fatty liver and metabolic disease.”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [180]
The Discussion reports that liver-specific Mecp2 deletion causes fatty liver and increased serum cholesterol, supporting the dyslipidaemia and fatty-liver parts of the claim. But the Introduction says these mice remain insulin sensitive, so the paper does not support a broader claim that they develop metabolic disease such as insulin resistance; it reports insulin resistance in whole-body Mecp2-null mice instead. No page numbers are available in our copy. (LLM, conf=0.86)
Experimental — accuracy not yet measuredBoth RTT patients and Mecp2 mutant mice present with metabolic syndrome, oxidative stress, cardiac defects, decreased bone density and urological dysfunction.
“Additionally, both RTT patients and Mecp2 mutant mice present with metabolic syndrome [15,180], oxidative stress [27,29], cardiac defects [211,212], decreased bone density [174,213] and urological dysfunction [214,215].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [180]
The Introduction and Discussion explicitly describe metabolic syndrome in Mecp2 mutant mice. For RTT patients, the Discussion reports abnormal cholesterol and triglyceride levels and glucose intolerance, but says systemic metabolic involvement remains a possibility requiring further examination; it does not establish that patients present with metabolic syndrome. The other conditions in the citing sentence have separate citations and are not assessed here. (LLM, conf=0.88)
Experimental — accuracy not yet measuredLiver-specific deletion of Mecp2 (B6.Mecp2tm1Bird/Y;Alb-Cre) results in an increase in lipogenic enzyme transcription.
“Interestingly, liver-specific deletion of Mecp2 (B6.Mecp2tm1Bird/Y;Alb-Cre) also results in an increase in lipogenic enzyme transcription [180].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [180]
Loss of Mecp2 from the liver is sufficient to cause metabolic disease in mice.
“These results support a hepatocyte-autonomous role for Mecp2 in co-ordinating repression of enzymes of the cholesterol and triglyceride biosynthesis pathways and show that loss of Mecp2 from the liver is sufficient to cause metabolic disease in mice.”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [180]
Loss of MeCP2 decreases HDAC3 binding to DNA, resulting in hyperacetylated histones, and increases transcription of numerous lipid-regulating genes.
“Loss of MeCP2 decreases HDAC3 binding to DNA, resulting in hyperacetylated histones, and increases transcription of numerous lipid-regulating genes.”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [180]
Mecp2 mutant mice develop severe dyslipidaemia due to aberrant transcription of lipogenesis enzymes in the liver.
“Indeed, Kyle et al. [180] showed that Mecp2 mutant mice develop severe dyslipidaemia due to aberrant transcription of lipogenesis enzymes in the liver, because MeCP2 interacts with the NCoR1/SMRT-HDAC3 complex to repress lipogenic gene transcription.”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [180]
Mecp2 mice preferentially metabolize fat rather than glucose as their primary energy source.
“Because Mecp2 mice preferentially metabolize fat rather than glucose as their primary energy source, it is likely that other energy-sensing systems are affected.”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [180]
Both RTT patients and Mecp2 mutant mice have abnormal responses to glucose tolerance tests, and mutant mice are also insulin-resistant.
“Not surprisingly, both RTT patients and Mecp2 mutant mice have abnormal responses to glucose tolerance tests, and mutant mice are also insulin-resistant [180,195].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [180]
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- Authors
- Kyle, S. M., Saha, P. K., Brown, H. M., Chan, L. C., & Justice, M. J.
- Affiliations
- Hospital for Sick Children (CA)
- Baylor College of Medicine (US)
- University of Toronto (CA)
- Corresponding author
- Justice, Monica J.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2016-06-10
- Volume
- 25
- Issue
- 14
- Pages
- ddw156
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC5181597
- OpenAlex
- W2418839526
- Cited by
- 84
- References
- 63
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 9 · 2023: 9 · 2022: 5 · 2021: 11 · 2020: 9 · 2019: 14 · 2018: 10 · 2017: 6 · 2016: 4
- FWCI
- 9.16
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- Human Molecular Genetics (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Funders
- Rett Syndrome Research Trust
- Hospital for Sick Children
- National Institutes of Health
- National Institute of General Medical Sciences (T32GM008307)
- National Institute of Diabetes and Digestive and Kidney Diseases (P30DK079638)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer, Lipids, and Metabolism
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Keywords
- MeCP2, Rett syndrome, NCOR1, HDAC3, corepressor complex, hepatic lipid metabolism, lipogenesis, cholesterol biosynthesis, hepatic steatosis, dyslipidemia, insulin resistance, adipose tissue inflammation, hepatocytes, statin therapy, metabolic homeostasis
- MeSH terms
- Histone Deacetylase 3, Animals, Brain, Disease Models, Animal, Histone Deacetylases, Insulin Resistance, Liver, Male, Mutation, Rett Syndrome, Sequence Deletion, Lipid Metabolism, Mice, Methyl-CpG-Binding Protein 2, Nuclear Receptor Co-Repressor 1
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