Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging

Al-Attar, Salam A.; Pollex, Rebecca L.; Robinson, John F.; Miskie, Brooke A; Walcarius, Rhonda; Little, Cynthia Harper; Rutt, Brian K.; Hegele, Robert A.

doi:10.1186/1471-2342-7-3

Cited by 26 publications

(20 citation statements)

References 24 publications

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“…Nevertheless, high blood leptin levels are associated with infertility in PCOS (40), in which the correlation between leptin, insulin, and visceral fat is lost (41). This divergence in leptin levels between infertile PCOS and FPLD could be attributed to not only fat mass but also fat repartition: it has been recently shown that fat is globally distributed in PCOS, whereas it is supraclavicular and abdominovisceral in FPLD (42,43). The pregnancies of the four LMNA-mutated women reported here (five pregnancies, with two miscarriages for the same woman) were all achieved, with the patients taking insulin sensitizers (metformin in four cases, rosiglitazone in one case).…”

Section: Discussionmentioning

confidence: 94%

Fertility and Obstetrical Complications in Women withLMNA-Related Familial Partial Lipodystrophy

Vantyghem

Vincent-Desplanques

Defrance-Faivre

et al. 2008

The Journal of Clinical Endocrinology & Metabolism

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In these LMNA-linked lipodystrophic patients, the prevalence of PCOS, infertility, and gestational diabetes was higher than in the general population. Moreover, the prevalence of gestational diabetes and miscarriages was higher in lipodystrophic LMNA-mutated women than previously reported in PCOS women with similar body mass index. Women with lipodystrophies due to LMNA mutations are at high risk of infertility, gestational diabetes, and obstetrical complications and require reinforced gynecological and obstetrical care.

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Section: Discussionmentioning

confidence: 94%

Fertility and Obstetrical Complications in Women withLMNA-Related Familial Partial Lipodystrophy

Vantyghem

Vincent-Desplanques

Defrance-Faivre

et al. 2008

The Journal of Clinical Endocrinology & Metabolism

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“…We have previously sequenced LMNA exon 11 in DNA from 194 Creole subjects with African ancestry from the Reunion Island (29), and we did not find the p.T655fsX49 mutation. (42), shows that sc lipoatrophy is absent or markedly less severe in patients with LMNA non-codon 482-associated mutations than in those with codon 482-associated mutations. In addition, MRI showed a fatty degeneration of glutei and adductor muscles in patient 1.…”

Section: Molecular Studiesmentioning

confidence: 96%

New Metabolic Phenotypes in Laminopathies:LMNAMutations in Patients with Severe Metabolic Syndrome

Decaudain

Vantyghem

Guerci

et al. 2007

The Journal of Clinical Endocrinology &Amp; Metabolism

139

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We describe here new phenotypes of metabolic laminopathy associated with non-codon 482 LMNA mutations and characterized, in the absence of obvious clinical lipoatrophy, by severe metabolic alterations and frequent muscle signs (muscular hypertrophy, myalgias, or weakness). Dual-energy x-ray absorptiometry and/or cross-sectional abdominal and thigh imaging can help diagnosis by revealing subclinical lipodystrophy. The prevalence and pathophysiology of metabolic laminopathies need to be studied further.

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“…We have developed a standardized methodology for semiautomated quantitation of subcutaneous adipose stores from MRI to study differences between subjects with lipodystrophy (88,89). Inspection of whole body magnetic resonance images, and also regional and segmental scans, showed remarkable differences between different types of lipodystrophy (Fig.…”

Section: Phenomic Studies Of Fat Distribution Using Magnetic Resonancmentioning

confidence: 99%

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism

Hegele

Joy

Al-Attar

et al. 2007

Journal of Lipid Research

127

103

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The lipodystrophies are characterized by loss of adipose tissue in some anatomical sites, frequently with fat accumulation in nonatrophic depots and ectopic sites such as liver and muscle. Molecularly characterized forms include Dunnigan-type familial partial lipodystrophy (FPLD), partial lipodystrophy with mandibuloacral dysplasia (MAD), Berardinelli-Seip congenital generalized lipodystrophy (CGL), and some cases with Barraquer-Simons acquired partial lipodystrophy (APL). The associated mutant gene products include 1) nuclear lamin A in FPLD type 2 and MAD type A; 2) nuclear lamin B2 in APL; 3) nuclear hormone receptor peroxisome proliferator-activated receptor g in FPLD type 3; 4 ) lipid biosynthetic enzyme 1-acylglycerol-3-phosphate O-acyltransferase 2 in CGL type 1; 5 ) integral endoplasmic reticulum membrane protein seipin in CGL type 2; and 6 ) metalloproteinase ZMPSTE24 in MAD type B. An unresolved question is whether metabolic disturbances are secondary to adipose repartitioning or result from a direct effect of the mutant gene product. Careful analysis of clinical, biochemical, and imaging phenotypes, using an approach called "phenomics," reveals differences between genetically stratified subtypes that can be used to guide basic experiments and to improve our understanding of common clinical entities, such as metabolic syndrome or the partial lipodystrophy syndrome associated with human immunodeficiency virus infection.-Hegele, R. A., T. R. Joy, S. A. Al-Attar, and B. K. Rutt. Lipodystrophies: windows on adipose biology and metabolism. J. Lipid Res.

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Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging

Cited by 26 publications

References 24 publications

Fertility and Obstetrical Complications in Women withLMNA-Related Familial Partial Lipodystrophy

Fertility and Obstetrical Complications in Women withLMNA-Related Familial Partial Lipodystrophy

New Metabolic Phenotypes in Laminopathies:LMNAMutations in Patients with Severe Metabolic Syndrome

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism

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