Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.

Köbberling, J.; Dunnigan, M. G.

doi:10.1136/jmg.23.2.120

Cited by 139 publications

(61 citation statements)

References 11 publications

(1 reference statement)

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“…Insulin resistance is the biochemical hallmark of FPLD2, and other features include acanthosis nigricans, hirsutism, menstrual abnormalities, and polycystic ovaries. 14 Careful phenotypic or "phenomic" studies performed in extended FPLD2 kindreds have shown metabolic changes that were similar to those seen in the common MetS. 15,16 In young adulthood, the characteristic biochemical profile seen in FPLD2 carriers of mutant LMNA included elevated plasma concentrations of free fatty acids, insulin and C-peptide, TG, and C-reactive protein (CRP), with depressed plasma concentrations of HDL cholesterol, leptin, and adiponectin.…”

Section: Fpld2: a Monogenic Form Of Metabolic Syndrome With Early Athmentioning

confidence: 99%

Laminopathies and Atherosclerosis

Alshali

Hegele

2004

ATVB

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Abstract-Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. Some laminopathies affect the cardiovascular system, and a few (namely, Dunnigan-type familial partial lipodystrophy [FPLD2] and HutchinsonGilford progeria syndrome [HGPS]) feature atherosclerosis as a key component. The premature atherosclerosis of FPLD2 is probably related to characteristic proatherogenic metabolic disturbances such as dyslipidemia, hyperinsulinemia, hypertension, and diabetes. In contrast, the premature atherosclerosis of HGPS occurs with less exposure to metabolic proatherogenic traits and probably reflects the generalized process of accelerated aging in HGPS. Although some common polymorphisms of LMNA have been associated with traits related to atherosclerosis, the monogenic diseases Key Words: nuclear envelope Ⅲ insulin resistance Ⅲ aging Ⅲ vascular disease Ⅲ progeria T he nuclear lamina is a 20-nm filamentous meshwork that underlies the inner nuclear membrane and plays a central role in defining interphase nuclear architecture, DNA replication, and chromatin organization. 1 Nuclear lamins are type V intermediate filaments that are the major components of the nuclear lamina.

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Section: Fpld2: a Monogenic Form Of Metabolic Syndrome With Early Athmentioning

confidence: 99%

Laminopathies and Atherosclerosis

Alshali

Hegele

2004

ATVB

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“…Many regions of the body, such as the face, neck, and intra-abdominal region are spared, and patients accumulate excess body fat in the non-lipodystrophic regions [74][75][76]. Metabolic complications, acanthosis nigricans, oligoame-norrhea, hirsutism, polycystic ovarian syndrome, mild to moderate myopathy, cardiomyopathy, and conduction system abnormalities indicative of multisystem dystrophy can occur [2,55,56,77].…”

Section: Familial Partial Lipodystrophy(fpl)mentioning

confidence: 99%

Lipodystrophy: The Metabolic Link of HIV Infection with Insulin-Resistance Syndrome

Freitas¹,

Carvalho²,

Souto³

et al. 2013

Current Perspectives in HIV Infection

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“…Simultaneously, the adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intra-abdominal region (Kobberling & Dunnigan 1986). The lipodystrophies are familial or acquired disorders characterized by variable loss of fat tissue.…”

Section: Discussionmentioning

confidence: 99%

The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy

Cortese¹,

Eckhardt²,

Volleth³

et al. 2007

Journal of Molecular Endocrinology

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Mutations in the LMNA gene cause various phenotypes including partial lipodystrophy, muscular dystrophies, and progeroid syndromes. The specific mutation position within the LMNA sequence can partially predict the phenotype, but the underlying mechanisms for the development of these different phenotypes are still unclear. To investigate whether different DNA methylation patterns contribute to the development of different phenotypes caused by LMNA mutations, we analyzed a panel of ten candidate genes related to fat metabolism, aging, and a tendency to different methylation patterns: CSPG2, ESR1, IGF1R, IGFR2, LMNA, MLH1, RANBP1, RARB, ZMPSTE24, and TGFBR1. We studied two independent families each comprising three individuals affected by familial partial lipodistrophy type 2 (FPLD2). Affected members in each family carried two different mutations of the LMNA gene (R482L and R471G respectively). In addition, we analyzed four progeria patients (2!LMNA/C G608G, 1!LMNA/C S143F, and 1!ZMPSTE24 IVS9-Ex10) and seven healthy adults. The gene encoding retinoic acid receptor B (RARB) showed a higher methylation in all six patients with FPLD2 when compared with the progeria patients with other LMNA mutations as well as the healthy controls (P!0 . 05).All other investigated genes showed no difference in the methylation patterns between the groups. A drug-induced inhibition of the retinol pathway is discussed as the key pathway for developing HAART-associated lipodystrophy and our data support a possible role of the retinol pathway in the development of lipodystrophy phenotypes.

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Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.

Cited by 139 publications

References 11 publications

Laminopathies and Atherosclerosis

Laminopathies and Atherosclerosis

Lipodystrophy: The Metabolic Link of HIV Infection with Insulin-Resistance Syndrome

The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy

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