The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Human Metabolic Syndrome Resulting From Dominant-Negative Mutations in the Nuclear Receptor Peroxisome Proliferator-Activated Receptor-γ
Abstract
We previously reported a syndrome of severe hyperinsulinemia and early-onset hypertension in three patients with dominant-negative mutations in the nuclear hormone receptor peroxisome proliferator-activated receptor (PPAR)-γ. We now report the results of further detailed pathophysiological evaluation of these subjects, the identification of affected prepubertal children within one of the original families, and the effects of thiazolidinedione therapy in two subjects. These studies 1) definitively demonstrate the presence of severe peripheral and hepatic insulin resistance in the affected subjects; 2) describe a stereotyped pattern of partial lipodystrophy associated with all the features of the metabolic syndrome and nonalcoholic steatohepatitis; 3) document abnormalities in the in vivo function of remaining adipose tissue, including the inability of subcutaneous abdominal adipose tissue to trap and store free fatty acids postprandially and the presence of very low circulating levels of adiponectin; 4) document the presence of severe hyperinsulinemia in prepubertal carriers of the proline-467-leucine (P467L) PPAR-γ mutation; 5) provide the first direct evidence of cellular resistance to PPAR-γ agonists in mononuclear cells derived from the patients; and 6) report on the metabolic response to thiazolidinedione therapy in two affected subjects. Although the condition is rare, the study of humans with dominant-negative mutations in PPAR-γ can provide important insight into the roles of this nuclear receptor in human metabolism.
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Citations
Cites
Cellular mechanisms of insulin resistance
Shulman, G. I. (2000) · Journal of Clinical Investigation · doi:10.1172/jci10583 · Cited by 2,714
The adipocyte-secreted protein Acrp30 enhances hepatic insulin action
Berg, A. H., Combs, T. P., Du, X., Brownlee, M., & Scherer, P. E. (2001) · Nature Medicine · doi:10.1038/90992 · Cited by 2,526
Kliewer, S. A., Sundseth, S. S., Jones, S. A., Brown, P. J., Wisely, G. B., Koble, C. S., Devchand, P., Wahli, W., Willson, T. M., Lenhard, J. M., et al. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.9.4318 · Cited by 2,164
Healthy percentage body fat ranges: an approach for developing guidelines based on body mass index
Gallagher, D., Heymsfield, S. B., Heo, M., Jebb, S. A., Murgatroyd, P. R., & Sakamoto, Y. (2000) · The American Journal of Clinical Nutrition · doi:10.1093/ajcn/72.3.694 · Cited by 2,139
Self-citationLeptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy
Petersen, K. F., Oral, E. A., Dufour, S., Befroy, D., Ariyan, C., Yu, C., Cline, G. W., DePaoli, A. M., Taylor, S. I., Gorden, P., et al. (2002) · Journal of Clinical Investigation · doi:10.1172/jci0215001 · Cited by 800 · cited 1×
“Although prior reports have suggested that IMTG levels are elevated in patients with total lipodystrophy, a recent report suggested that IMTGs were within the range seen in control subjects (30).”
ResultMiyazaki, Y., Mahankali, A., Matsuda, M., Mahankali, S., Hardies, J., Cusi, K., Mandarino, L. J., & DeFronzo, R. A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.6.8567 · Cited by 726
Physiology and Pathophysiology of the Adipose Tissue Renin-Angiotensin System
Engeli, S., Negrel, R., & Sharma, A. M. (2000) · Hypertension · doi:10.1161/01.hyp.35.6.1270 · Cited by 475
Reitman, M. L., Arioglu, E., Gavrilova, O., & Taylor, S. I. (2000) · Trends in Endocrinology & Metabolism · doi:10.1016/s1043-2760(00)00309-x · Cited by 193
Cited by
(1998) · PubMed · Cited by 2,737
PPARγ signaling and metabolism: the good, the bad and the future
Ahmadian, M., Suh, J. M., Hah, N., Liddle, C., Atkins, A. R., Downes, M., & Evans, R. M. (2013) · Nature Medicine · doi:10.1038/nm.3159 · Cited by 2,016
The Human Obesity Gene Map: The 2005 Update
Rankinen, T., Zuberi, A., Chagnon, Y. C., Weisnagel, S. J., Argyropoulos, G., Walts, B., Pérusse, L., & Bouchard, C. (2006) · Obesity · doi:10.1038/oby.2006.71 · Cited by 1,119
Disordered lipid metabolism and the pathogenesis of insulin resistance.
Savage, D. B., Petersen, K. F., & Shulman, G. I. (2007) · Physiological Reviews · doi:10.1152/physrev.00024.2006 · Cited by 1,107
Self-citationGluteofemoral body fat as a determinant of metabolic health
Manolopoulos, K. N., Karpe, F., & Frayn, K. N. (2010) · International Journal of Obesity · doi:10.1038/ijo.2009.286 · Cited by 811
Self-citation
Metadata
- Authors
- Savage, D. B., Tan, G. D., Acerini, C. L., Jebb, S. A., Agostini, M., Gurnell, M., Williams, R. L., Umpleby, A. M., Thomas, E. L., Bell, J. D., Dixon, A. K., Dunne, F., Boiani, R., Cinti, S., Vidal-Puig, A., Karpe, F., Chatterjee, V. K. K., & O’Rahilly, S.
- Venue
- Diabetes
- Publisher
- American Diabetes Association
- Published
- 2003-04-01
- Volume
- 52
- Issue
- 4
- Pages
- 910-917
- ISSN
- 0012-1797 (ISSN-L)
- 1939-327X
- OpenAlex
- W2170353692
- Cited by
- 430
- References
- 8
- FWCI
- 13.08
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Human Metabolic Syndrome Resulting From Dominant-Negative Mutations in the Nuclear Receptor Peroxisome Proliferator-Activated Receptor-γ. https://app.cochat.ai/papers/10.2337/diabetes.52.4.910
- The paper
- Savage, D. B., Tan, G. D., Acerini, C. L., Jebb, S. A., Agostini, M., Gurnell, M., Williams, R. L., Umpleby, A. M., Thomas, E. L., Bell, J. D., Dixon, A. K., Dunne, F., Boiani, R., Cinti, S., Vidal-Puig, A., Karpe, F., Chatterjee, V. K. K., & O’Rahilly, S. (2003). Human Metabolic Syndrome Resulting From Dominant-Negative Mutations in the Nuclear Receptor Peroxisome Proliferator-Activated Receptor-γ. Diabetes. https://doi.org/10.2337/diabetes.52.4.910
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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