Genomes and Genes
lipoatrophic diabetes mellitus
Summary: A type of diabetes mellitus that is characterized by severe INSULIN RESISTANCE and LIPODYSTROPHY. The latter may be generalized, partial, acquired, or congenital (LIPODYSTROPHY, CONGENITAL GENERALIZED).
- Zhou H, Lei X, Benson T, MINTZ J, Xu X, HARRIS R, et al. Berardinelli-Seip congenital lipodystrophy 2 regulates adipocyte lipolysis, browning, and energy balance in adult animals. J Lipid Res. 2015;56:1912-25 pubmed publisher..These findings suggest that Bscl2 regulates adipocyte lipolysis and Î²-adrenergic signaling to produce complex effects on adipose tissues and whole-body energy balance. ..
- Dollet L, Levrel C, Coskun T, Le Lay S, Le May C, Ayer A, et al. FGF21 Improves the Adipocyte Dysfunction Related to Seipin Deficiency. Diabetes. 2016;65:3410-3417 pubmed
- Lima J, Lima N, Nobrega L, Jerônimo S. Conversations between insulin and bone: Potential mechanism of high bone density in patients with Berardinelli-Seip Congenital Lipodystrophy. Med Hypotheses. 2016;97:94-97 pubmed publisher..Understanding the potential pathophysiological mechanism of these bone abnormalities will help to clarify the effects of extreme insulin resistance in the bone. ..
- Capeau J, Magre J, Lascols O, Caron M, Bereziat V, Vigouroux C, et al. Diseases of adipose tissue: genetic and acquired lipodystrophies. Biochem Soc Trans. 2005;33:1073-7 pubmed..Such syndromes help to understand the mechanisms involved in insulin resistance resulting from altered fat repartition and could benefit from insulin-sensitizing effects of lifestyle modifications or of specific medications. ..
- Lundin C, Nordström R, Wagner K, Windpassinger C, Andersson H, von Heijne G, et al. Membrane topology of the human seipin protein. FEBS Lett. 2006;580:2281-4 pubmed..Our results suggest that the predominant form of seipin is 462 residues long and has an N(cyt)-C(cyt) orientation with a long luminal loop between the two transmembrane helices. ..
- Broers J, Kuijpers H, Ostlund C, Worman H, Endert J, Ramaekers F. Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization. Exp Cell Res. 2005;304:582-92 pubmed..Our findings suggest a loss of function of A-type lamin mutant proteins in the organization of intranuclear chromatin and predict the loss of gene regulatory function in laminopathies...
- Niimi M. [Leptin]. Nihon Rinsho. 2005;63 Suppl 8:588-91 pubmed
- PremKumar A, Chow C, Bhandarkar P, Wright V, Koshy N, Taylor S, et al. Lipoatrophic-lipodystrophic syndromes: the spectrum of findings on MR imaging. AJR Am J Roentgenol. 2002;178:311-8 pubmed
- Chou C, Haluzik M, Gregory C, Dietz K, Vinson C, Gavrilova O, et al. WY14,643, a peroxisome proliferator-activated receptor alpha (PPARalpha ) agonist, improves hepatic and muscle steatosis and reverses insulin resistance in lipoatrophic A-ZIP/F-1 mice. J Biol Chem. 2002;277:24484-9 pubmed
- Mandal K, Aneja S, Seth A, Khan A. Berardinelli-Seip congenital lipodystrophy. Indian Pediatr. 2006;43:440-5 pubmed..The mutation (c.IVS2 11 A GT G ) found in affected members of family1 is a newly identified mutation. We also report the association of renal anomaly with this new mutation. ..
- Al Shali K, Hegele R. Laminopathies and atherosclerosis. Arterioscler Thromb Vasc Biol. 2004;24:1591-5 pubmed..These monogenic diseases may provide clues about new pathways for atherogenesis. ..
- Ludtke A, Heck K, Genschel J, Mehnert H, Spuler S, Worman H, et al. Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone. Diabet Med. 2005;22:1611-3 pubmed..This case demonstrates the benefits of PPARgamma-agonists on glycaemic control and dyslipidaemia in a patient with FPLD. This in turn implies that PPARgamma may play a pathophysiological role in FPLD. ..
- Colombo C, Cutson J, Yamauchi T, Vinson C, Kadowaki T, Gavrilova O, et al. Transplantation of adipose tissue lacking leptin is unable to reverse the metabolic abnormalities associated with lipoatrophy. Diabetes. 2002;51:2727-33 pubmed..Taken together, these results suggest that sequestration of triglycerides into fat may not be enough to restore a nondiabetic phenotype and that leptin deficiency plays a major role in causing the metabolic complications of lipoatrophy. ..
- Ebihara K, Ogawa Y, Nakao K. [Insulin resistant transgenic mice]. Nihon Rinsho. 2002;60 Suppl 8:79-84 pubmed
- Prasad A. Berardinelli seip syndrome. Indian Pediatr. 2005;42:1245 pubmed
- Pandey S, Pungavkar S, Vaidya R, Patkar D, Hegele R, Sheth F, et al. An imaging study of body composition including lipodeposition pattern in a patient of familial partial lipodystrophy (Dunnigan type). J Assoc Physicians India. 2005;53:897-900 pubmed..MRI. The importance of increased perinephric, retroperitoneal and intermuscular fat in the thighs found in this patient, needs to be explored vis-à-vis the pathogenesis of insulin resistance found in FPLD. ..
- El Zowalaty A, Li R, Chen W, Ye X. Seipin deficiency leads to increased endoplasmic reticulum stress and apoptosis in mammary gland alveolar epithelial cells during lactation. Biol Reprod. 2018;98:570-578 pubmed publisher..This study demonstrates increased ER stress and apoptosis in LD1 Bscl2-/- mammary gland alveolar epithelial cells and reveals a novel in vivo function of seipin in lactation. ..
- Baba Y, Kaneko H, Takemoto M, Ide K, Haga Y, Kanda T, et al. Case of lipoatrophic diabetes induced by juvenile dermatomyositis. J Diabetes Investig. 2017;: pubmed publisher..Liver biopsy showed burned-out non-alcoholic steatohepatitis. The present results show that the successful treatment of lipoatrophic diabetes induced by juvenile dermatomyositis requires an early diagnosis and therapeutic intervention...
- LeRoith D, Gavrilova O. Mouse models created to study the pathophysiology of Type 2 diabetes. Int J Biochem Cell Biol. 2006;38:904-12 pubmed..This review will summarize many of the more appropriate models that study insulin resistance and Type 2 diabetes. ..
- Hou J, Huang S. Recurrent panniculitis associated with generalized lipodystrophy and growth hormone deficiency. J Formos Med Assoc. 2005;104:518-21 pubmed..Acquired GLD with GH deficiency (e.g., recurrent panniculitis) may occur as a result of chronic inflammation over the pituitary stalk and pituitary gland. The use of steroid and GH replacement may alleviate this disorder. ..
- Kamin D, Hadigan C, Lehrke M, Mazza S, Lazar M, Grinspoon S. Resistin levels in human immunodeficiency virus-infected patients with lipoatrophy decrease in response to rosiglitazone. J Clin Endocrinol Metab. 2005;90:3423-6 pubmed..Further investigation into the physiological role of this peroxisome proliferator-activated receptor-gamma-responsive adipocytokine in the metabolic abnormalities associated with HIV is warranted. ..
- Lima J, Nobrega L, Lima N, Dos Santos M, Baracho M, Bandeira F, et al. Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients. J Clin Densitom. 2018;21:61-67 pubmed publisher..More than half of our patients with BSCL have BMD Z-scores higher than +2.5?SD on at least 1 site, and this increase is more pronounced in the trabecular sites and in type 2 patients. ..
- Lounis M, Lalonde S, Rial S, Bergeron K, Ralston J, Mutch D, et al. Hepatic BSCL2 (Seipin) Deficiency Disrupts Lipid Droplet Homeostasis and Increases Lipid Metabolism via SCD1 Activity. Lipids. 2017;52:129-150 pubmed publisher..In conclusion, our results suggest that a hepatic BSCL2/Bscl2 deficiency induces the increase and expansion of LD, potentially via increased SCD1 activity. ..
- Figueiredo Filho P, Costa Val A, Diamante R, Cunha C, Norton R, Lamounier J, et al. [Congenital generalized lipodystrophy]. J Pediatr (Rio J). 2004;80:333-6 pubmed..A better understanding of this syndrome may open new horizons in the research of more prevalent diseases such as diabetes mellitus and obesity. ..
- Reitman M, Arioglu E, Gavrilova O, Taylor S. Lipoatrophy revisited. Trends Endocrinol Metab. 2000;11:410-6 pubmed..Thiazolidinedione therapy improves metabolic control in lipoatrophic patients; the efficacy of leptin treatment is currently being investigated. ..
- Utzschneider K, Trence D. Effectiveness of gastric bypass surgery in a patient with familial partial lipodystrophy. Diabetes Care. 2006;29:1380-2 pubmed
- Kusakabe T, Ebihara K, Nakao K. [Lipoatrophic diabetes]. Nihon Rinsho. 2006;Suppl 3:110-3 pubmed
- Schaffler A, Barth N, Palitzsch K, Drobnik W, Scholmerich J, Schmitz G. Mutation analysis of the human adipocyte-specific apM-1 gene. Eur J Clin Invest. 2000;30:879-87 pubmed..Well defined cohorts of patients are necessary to determine the putative role of apM-1 gene mutations in the pathogenesis of metabolic disorders. ..
- Boguslavsky R, Stewart C, Worman H. Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2006;15:653-63 pubmed..They also had increased basal phosphorylation of AKT1, a mediator of insulin signaling. We conclude that A-type lamins act as inhibitors of adipocyte differentiation, possibly by affecting PPARgamma2 and insulin signaling. ..
- Francis G, Li G, Casey R, Wang J, Cao H, Leff T, et al. Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). BMC Med Genet. 2006;7:3 pubmed
- Maraldi N, Lattanzi G, Squarzoni S, Capanni C, Cenni V, Manzoli F. Implications for nuclear organization and gene transcription of lamin A/C specific mutations. Adv Enzyme Regul. 2005;45:1-16 pubmed
- Oral E. Lipoatrophic diabetes and other related syndromes. Rev Endocr Metab Disord. 2003;4:61-77 pubmed
- Usui H, Makino H, Shikata K, Sugimoto T, Wada J, Yamana J, et al. A case of congenital generalized lipodystrophy with lipoatrophic diabetes developing anti-insulin antibodies. Diabet Med. 2002;19:794-5 pubmed
- Zhang Y, Long H, Zhou F, Zhu W, Ruan J, Zhao Y, et al. Echinacoside's nigrostriatal dopaminergic protection against 6-OHDA-Induced endoplasmic reticulum stress through reducing the accumulation of Seipin. J Cell Mol Med. 2017;21:3761-3775 pubmed publisher..ECH attenuated seipinopathy by promoting seipin degradation via ubiquitination. ERS was relieved by ECH through the Grp94/Bip-ATF4-CHOP signal pathway. ..
- Ebihara K, Ogawa Y, Masuzaki H, Shintani M, Miyanaga F, Aizawa Abe M, et al. Transgenic overexpression of leptin rescues insulin resistance and diabetes in a mouse model of lipoatrophic diabetes. Diabetes. 2001;50:1440-8 pubmed
- Ampudia Blasco F, Girbes J, Carmena R. A case of lipoatrophy with insulin glargine: long-acting insulin analogs are not exempt from this complication. Diabetes Care. 2005;28:2983 pubmed
- Goodpaster B. Measuring body fat distribution and content in humans. Curr Opin Clin Nutr Metab Care. 2002;5:481-7 pubmed..Further queries about human health and disease will undoubtedly lead to refinement of these methods and innovation of new body composition methodologies. ..
- Wong S, Huda M, English P, Bargiotta A, Wilding J, Johnson A, et al. Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A/C. Diabetologia. 2005;48:2641-9 pubmed
- Martin G. Genetic modulation of senescent phenotypes in Homo sapiens. Cell. 2005;120:523-32 pubmed..They thus support the importance of the maintenance of proper protein processing and folding as a partial antidote to aging. ..
- Auer Grumbach M, Schlotter Weigel B, Lochmuller H, Strobl Wildemann G, Auer Grumbach P, Fischer R, et al. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol. 2005;57:415-24 pubmed..Sensory nerve conduction studies were rarely pathological. Our study indicates that the dominant N88S mutation in the Berardinelli-Seip congenital lipodystrophy gene 2 leads to a broad spectrum of motor neuron disorders. ..
- Reitman M, Gavrilova O. A-ZIP/F-1 mice lacking white fat: a model for understanding lipoatrophic diabetes. Int J Obes Relat Metab Disord. 2000;24 Suppl 4:S11-4 pubmed..Leptin replacement is not very effective in reversing the diabetes of the A-ZIP/F-1 mice, which contrasts with its efficacy in the aP2-SREBP-lc mouse. ..
- McKnight S. WAT-free mice: diabetes without obesity. Genes Dev. 1998;12:3145-48 pubmed
- Lima J, Nobrega L, Lima N, Dos Santos M, Baracho M, Winzenrieth R, et al. Normal bone density and trabecular bone score, but high serum sclerostin in congenital generalized lipodystrophy. Bone. 2017;101:21-25 pubmed publisher..This is the first report of high sclerostin and good bone microarchitecture (TBS) in BSCL patients. ..
- Dollet L, MagrÃ© J, Joubert M, Le May C, Ayer A, Arnaud L, et al. Seipin deficiency alters brown adipose tissue thermogenesis and insulin sensitivity in a non-cell autonomous mode. Sci Rep. 2016;6:35487 pubmed publisher..Therefore, the WAT/BAT dialogue is a key component of BAT integrity in guaranteeing its response to insulin and cold-activated adrenergic signals. ..
- Borisov A, Ushakov A, Zagorulko A, Novikov N, Selivanova K, Edwards C, et al. Intracardiac lipid accumulation, lipoatrophy of muscle cells and expansion of myocardial infarction in type 2 diabetic patients. Micron. 2008;39:944-51 pubmed
- Hegele R, Cao H, Liu D, Costain G, Charlton Menys V, Rodger N, et al. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am J Hum Genet. 2006;79:383-9 pubmed..2 x 10-5). These novel heterozygous mutations are the first reported for LMNB2, are the first reported among patients with APL, and indicate how sequencing of a reannotated candidate gene can reveal new disease-associated mutations. ..
- Bhujel N, Clark H. Case report: Dental management of Berardinelli-Seip congenital lipodystrophy. Eur Arch Paediatr Dent. 2016;17:137-40 pubmed publisher..The patient had a number of dental manifestations associated with BSCL. Peri-operative planning is essential for some patients who may have a number of medical conditions. ..
- Haluzik M, Dietz K, Kim J, Marcus Samuels B, Shulman G, Gavrilova O, et al. Adrenalectomy improves diabetes in A-ZIP/F-1 lipoatrophic mice by increasing both liver and muscle insulin sensitivity. Diabetes. 2002;51:2113-8 pubmed..These results suggest that the chronically increased serum corticosterone levels contribute to the diabetes of the A-ZIP/F-1 mice and that removal of the glucocorticoid excess improves the insulin sensitivity in both muscle and liver. ..
- Morse A, Whitaker M. Successful pregnancy in a woman with lipoatrophic diabetes mellitus. A case report. J Reprod Med. 2000;45:850-2 pubmedb>Lipoatrophic diabetes mellitus is a rare insulin-resistance syndrome...
- Kusakabe T, Ebihara K, Nakao K. [Efficacy of leptin-replacement therapy in patients with lipoatrophic diabetes]. Nihon Rinsho. 2006;64 Suppl 9:737-41 pubmed
- Ebihara K, Masuzaki H, Nakao K. Long-term leptin-replacement therapy for lipoatrophic diabetes. N Engl J Med. 2004;351:615-6 pubmed