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At least 631 records · Page 35Linked to original sources
PubMed1998

Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy.

Overexpression of the nuclear form of sterol regulatory element-binding protein-1c (nSREBP-1c/ADD1) in cultured 3T3-L1 preadipocytes was shown previously to promote adipocyte differentiation. Here, we produced transgenic mice that overexpress nSREBP-1c in adipose tissue under the control of the adipocyte-specific aP2 enhancer/promoter. A syndrome with the following features was observed: (1) Disordered differentiation of adipose tissue. White fat failed to differentiate fully, and the size of white fat depots was markedly decreased. Brown fat was hypertrophic and contained fat-laden cells resembling immature white fat. Levels of mRNA encoding adipocyte differentiation markers (C/EBPalpha, PPARgamma, adipsin, leptin, UCP1) were reduced, but levels of Pref-1 and TNFalpha were increased. (2) Marked insulin resistance with 60-fold elevation in plasma insulin. (3) Diabetes mellitus with elevated blood glucose (>300 mg/dl) that failed to decline when insulin was injected. (4) Fatty liver from birth and elevated plasma triglyceride levels later in life. These mice exhibit many of the features of congenital generalized lipodystrophy (CGL), an autosomal recessive disorder in humans.

Adipose Tissue↗
PubMed2005

Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone.

Dunnigan-type familial partial lipodystrophy (FPLD) is caused by mutations in LMNA, the gene that encodes nuclear lamins A and C. FPLD is characterized by peripheral fat loss, excess central adiposity, insulin resistance, and hyperlipidaemia, which are difficult to treat. We present our 2 years' experience of treatment with rosiglitazone in a subject with FPLD. Insulin requirement decreased significantly from 240 IU/day to 76 IU/day (range 20-240 IU/day) and serum triglyceride concentration was lowered from 13.7 +/- 14.4 mmol/l to 4.5 +/- 4.3 mmol/l and remained stable. Mean HbA(1c) prior to rosiglitazone therapy was 9.4 +/- 1.32% and decreased to 7.4 +/- 0.6% during therapy with rosiglitazone. 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.

Aged↗
PubMed2005

Hepatic steatosis in Dunnigan-type familial partial lipodystrophy.

OBJECTIVES: Characterization of familial clusters of subjects with metabolic derangements predisposing to hepatic steatosis and nonalcoholic steatohepatitis could facilitate genomic studies to identify risk factors for their development. Dunnigan-type familial partial lipodystrophy (FPLD) is an autosomal dominantly inherited disorder caused by mutations in the LMNA gene. Affected subjects have loss of subcutaneous fat from the extremities and symptoms similar to those characterizing the metabolic syndrome, including insulin resistance and dyslipidemia. The goal of this study was to determine the prevalence of steatosis in subjects with FPLD. METHODS: We examined 18 subjects from six families with FPLD for mutations in LMNA and analyzed plasma lipid and serum glucose concentrations. Liver ultrasound and serum aminotransferase activities were used as indicators of steatosis or steatohepatitis. In two subjects, histological examination of hepatic tissue was performed. RESULTS: All subjects had FPLD-causing mutations in LMNA. Plasma lipids were measured in 17 subjects, 16 of whom had hyperlipidemia and 14 presented with either documented insulin resistance or diabetes mellitus. Hepatic steatosis was present in 15 subjects who had ultrasound examinations and 9 of these had elevated serum aminotransferase activities. Liver biopsy confirmed steatosis in 2 subjects. CONCLUSIONS: Hepatic steatosis is part of the clinical phenotype of FPLD. This familial disorder may provide a human metabolic model system to facilitate genomic and environmental studies to determine risk factors for hepatic steatosis and nonalcoholic steatohepatitis.

Adipose Tissue↗
PubMed2002

Diffuse mesenteric lipodystrophy (massive fat necrosis) in a cat.

Clinical, radiographic, and pathological findings of diffuse mesenteric lipodystrophy in a 3-year-old, female domestic short-haired cat are described. The animal had fallen from a height of approximately 20 metres 6 weeks previously, after which it developed respiratory distress and anorexia. The cat was thin, exhausted and had rapid, shallow, open-mouthed breathing. Serial upper gastrointestinal contrast radiographs showed a prolonged transit time of the contrast medium due to restricted gastric emptying, and filling defects of the duodenojejunal portions of the small intestines. The cranial abdominal cavity contained large, firm, white masses that adhered to most of the anterior abdominal organs. The intestinal walls were completely surrounded by large, hard, lobulated masses of lipomatous tissue. The masses were characterised histologically by extensive areas of coagulative necrosis of adipocytes containing foci of saponification. The lesions resembled those of massive fat necrosis or lipomatosis in cattle, pigs and deer.

Accidental Falls↗
PubMed2006

Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3).

BACKGROUND: Familial partial lipodystrophy (Dunnigan) type 3 (FPLD3, Mendelian Inheritance in Man [MIM] 604367) results from heterozygous mutations in PPARG encoding peroxisomal proliferator-activated receptor-gamma. Both dominant-negative and haploinsufficiency mechanisms have been suggested for this condition. METHODS: We present a Canadian FPLD3 kindred with an affected mother who had loss of fat on arms and legs, but no increase in facial, neck, suprascapular or abdominal fat. She had profound insulin resistance, diabetes, severe hypertriglyceridemia and relapsing pancreatitis, while her pre-pubescent daughter had normal fat distribution but elevated plasma triglycerides and C-peptide and depressed high-density lipoprotein cholesterol. RESULTS: The mother and daughter were each heterozygous for PPARG nonsense mutation Y355X, whose protein product in vitro was transcriptionally inactive with no dominant-negative activity against the wild-type receptor. In addition the mutant protein appeared to be markedly unstable. CONCLUSION: Taken together with previous studies of human PPARG mutations, these findings suggest that PPAR-gamma deficiency due either to haploinsufficiency or to substantial activity loss due to dominant negative interference of the normal allele product's function can each contribute to the FPLD3 phenotype.

Canada↗
PubMed2004

A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy.

Familial partial lipodystrophy (FPLD) results from coding sequence mutations either in LMNA, encoding nuclear lamin A/C, or in PPARG, encoding peroxisome proliferator-activated receptor gamma (PPARgamma). The LMNA form is called FPLD2 (MIM 151660), and the PPARG form is called FPLD3 (MIM 604367). We now report a 21-yr-old female with FPLD and no coding sequence mutations in either LMNA or PPARG. She was heterozygous for a novel A>G mutation at position -14 of intron B upstream of PPARG exon 1 within the promoter of the PPARgamma4 isoform. Her less severely affected father, who had features of the metabolic syndrome and a paucity of limb and gluteal fat, was also heterozygous for -14A>G. This mutation was absent among 600 alleles from normal Caucasians. A minimal promoter sequence bearing the mutation had significantly reduced promoter activity when used to drive reporter expression in in vitro expression in two cell lines, compared with the wild-type sequence. This is the first report of a human mutation in the promoter of a PPARgamma isoform. Because the mutation affects PPARgamma4 expression and is associated with FPLD, this implies that PPARgamma4 might be important for fat depot distribution and metabolism in vivo.

3T3-L1 Cells↗
PubMed2000

Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome).

Total generalized lipodystrophy (Berardinelli - Seip Syndrome) is a rare hereditary disease characterized by insulin-resistant diabetes mellitus and a small quantity of adipose tissue and is of unknown origin. Common cardiovascular alterations related to this syndrome are cardiac hypertrophy and arterial hypertension. This article reports a case of Berardinelli - Seip syndrome and reviews the literature with special emphasis on the cardiovascular manifestations of this syndrome.

Cardiomegaly↗
PubMed1975

[A case of "membranous lipodystrophy (Nasu)" with emphasis on psychiatric and neuropathologic aspects (author's transl)].

A housewife, 42 years old, died from a chronic progressive neuro-psychiatric illness of 15 years duration characterized by memory disturbance, moria-syndrome, euphoria, social disorder and extrapyramidal symptoms combined with a severe bone disease. Pathologically, the adipose tissue in bone marrow, and also in other body areas such as the periadrenal region and renal pelvis showed a characteristic degeneration with "membranous cycle" structures. Neuropathological examination showed an extensive atrophy of cerebral white matter, especially in the frontal and temporal lobes, with a marked fibrillary gliosis, a moderate destruction of myelin sheath without grossly visible distinct demyelination and with a relatively normal cerebral cortex: a picture resembling sclerosing leukoencephalopathy. From these findings the case was identified as "membranous lipodystrophy--Nasu." Moreover, the case may be related to the "lipomembranous polycystic osteodysplasia with progressive dementia" of Järvi, Hakola et. al. In cases with an unknown atrophic illness of cerebral white matter there should be carried out a pathological examination of adipose tissue, especially of the bone marrow.

Adipose Tissue↗
PubMed2005

Recurrent panniculitis associated with generalized lipodystrophy and growth hormone deficiency.

Generalized lipodystrophy (GLD) is characterized clinically by an almost complete lack of fat in adipose tissue. Traditionally, GLD can be divided into congenital and acquired types according to the clinical course and underlying etiologies. Here, we describe a boy with a probable diagnosis of acquired GLD. He showed recurrent panniculitis since early infancy, and short stature with delayed skeletal age (3 years less) and low levels of insulin-like growth factor-1 (IGF-1) and IGF binding protein-3. Growth hormone (GH) deficiency was confirmed by GH provocative tests (peak GH below 5 microg/L). In addition to slow progressive loss of subcutaneous fat tissue, he also suffered from hepatosplenomegaly, recurrent febrile episodes in association with painful nodular skin lesions and abdominal pain. The diagnosis of lipodystrophic panniculitis was confirmed after skin biopsy. The febrile episodes and skin lesions responded to oral corticosteroid with the progression of time. 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.

Adolescent↗
PubMed2005

Congenital generalized lipodystrophy in a 4 year old Chinese girl.

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue since birth and insulin resistance. The diagnosis is made on the basis of lack of body fat, muscular hypertrophy, acanthosis nigricans, hirsutism, hepatomegaly with fatty liver, hyperlipidemia and hyperglycemia with insulin resistance. We describe a 4-year-old Chinese girl with the clinical features of CGL.

Child, Preschool↗
PubMed2005

An imaging study of body composition including lipodeposition pattern in a patient of familial partial lipodystrophy (Dunnigan type).

Familial Partial Lipodystrophy, Dunnigan type (FPLD), is characterised by loss of subcutaneous fat from the limbs and an excessive accumulation of fat on the neck, shoulder girdle and face. Affected individuals have insulin resistance, dyslipidaemia and early cardiovascular events. Body composition (BC) with details of adipose tissue distribution were studied by Dual-Energy X-ray Absorptiometry (DEXA) and Magnetic Resonance Imaging (MRI) ina heterozygote for the FPLD mutation LMNA R482W, and in an age, sex and body mass index (BMI) matched normal control. DEXA revealed a marked decrease in total as well as regional fat percentage in the patient compared to a normal control. Marked reductions in subcutaneous fat in the extremities with substantial lipodeposition in the nape of the neck were confirmed with. 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.

Absorptiometry, Photon↗
PubMed2001

Mesenteric liposarcoma or lipodystrophy: an elusive diagnosis.

Mass lesions of the mesentery may be fortuitously encountered on computerized tomographic (CT) scans, posing a diagnostic challenge. Despite CT, magnetic resonance (MR) imaging and a surgical biopsy, a patient with mesenteric lipodystrophy was misdiagnosed as having a low-grade mesenteric liposarcoma. Spontaneous regression of the mass on control CT scan and review of the pathological material prompted us to reconsider the diagnosis of malignancy. Because a wide variety of tumors and pseudotumors produce alterations in the density and volume of mesenteric fat on CT scan, a surgical biopsy is usually necessary to obtain a tissue-specific diagnosis, but even then pathological findings may be equivocal. As final resort the natural evolution assessed by radiological follow-up can be of help in determining the nature of the disease.

Biopsy↗
PubMed1986

[Intestinal lipodystrophy (M. Whipple). Synopsis of radiology, endoscopy and histology].

The case of a 48 years old man with intestinal lipodystrophy (Whipple's disease) is clinically, roentgenologically, endoscopically and histologically documented. The diagnosis was established by endoscopic biopsy and laparatomy. The patho-histologic changes of the mucosa of the proximal small bowel are pathognomonic. Roentgenologically the characteristic mucosal and lymphadenoid changes can be demonstrated as well as the extent of the process.

Endoscopy↗
PubMed1978

Membranous lipodystrophy of bone.

A 23-year old man with a fracture of the right lateral malleolus was found to have osteolytic lesions of the lower end of both fibulas and of the right talus. He was mentally defective from birth, with convulsions from the age of 4 years and a limp since the age of 15. Biopsy tissue from the right fibula that was removed one year after the fracture consisted of marrow adipose tissue that had been transformed by the development of thick, convuluted PAS positive membranes around the cells. Electron microscopy indicated that each membrane had a complex, microvillous substructure. At the time of biopsy, lytic lesions were found in both femoral medial condyles and, one year later, in the distal shaft of the left radius. Membranous lipodystrophy is a rare, generalized, skeletal disease that was previously reported in Finland and Japan, and is usually followed by progressive presenile dementia.

Adipose Tissue↗
PubMed1984

[Mesenteric lipodystrophy: differential diagnosis of a benign abdominal tumor].

In a clinical presentation of a patient with mesenteric lipodystrophy the usefulness of the two imaging procedures ultrasound and computeromography is firstly demonstrated. Both methods have proven as good means in early diagnosis and patients follow up. Combination of ultrasound and guided tumor puncture is able to establish diagnosis avoiding laparotomy. For the follow up of these patients ultrasound and computertomography are valuable.

Abdominal Neoplasms↗