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Acquired and inherited lipodystrophies.
  • A. Garg
  • Medicine, Biology
    The New England journal of medicine
  • 18 March 2004
TLDR
This review focuses on the clinical features, underlying pathogenetic mechanisms, and management of various types of acquired and inherited lipodystrophies.
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The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology
TLDR
It is hypothesized that seipin is important for droplet maintenance and perhaps assembly, and 58 other genes whose deletions cause aberrant lipid droplets are identified, including 2 genes encoding proteins known to activate lipin, a lipodystrophy locus in mice, and 16 other genes that are involved in endosomal–lysosomal trafficking.
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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
TLDR
It is concluded that mutations in ZMPSTE24 may cause MAD by affecting prelamin A processing by affecting the mating defect of the haploid MATa yeast lacking STE24 and Ras-converting enzyme 1 (RCE1; another prenylprotein-specific endoprotease) genes.
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Beneficial effects of high dietary fiber intake in patients with type 2 diabetes mellitus.
TLDR
A high intake of dietary fiber, particularly of the soluble type, above the level recommended by the ADA, improves glycemic control, decreases hyperinsulinemia, and lowers plasma lipid concentrations in patients with type 2 diabetes.
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Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.
  • A. Garg
  • Medicine
    The Journal of clinical endocrinology and…
  • 24 August 2011
TLDR
The most prevalent subtype of acquired lipodystrophy currently occurs with prolonged duration of protease inhibitor-containing, highly-active antiretroviral therapy in HIV-infected patients.
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Evidence-based nutrition principles and recommendations for the treatment and prevention of diabetes and related complications.
TLDR
This 2002 technical review provides principles and recommendations classified according to the level of evidence available, and grades nutrition principles into four categories based on the available evidence: those with strong supporting evidence, those with some supporting evidence), those with limited supporting evidence and those based on expert consensus.
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AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34
TLDR
It is concluded that mutations in AGPAT2 may cause congenital generalized lipodystrophy by inhibiting triacylglycerol synthesis and storage in adipocytes.
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Congenital generalized lipodystrophies—new insights into metabolic dysfunction
  • N. Patni, A. Garg
  • Medicine, Biology
    Nature Reviews Endocrinology
  • 1 September 2015
TLDR
Aside from conventional therapy for hyperlipidaemia and diabetes mellitus, metreleptin replacement therapy can dramatically improve metabolic complications in patients with CGL.
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Seipin is required for converting nascent to mature lipid droplets
TLDR
Using Drosophila and human cells, it is shown that seipin, an ER protein implicated in LD biology, mediates a discrete step in LD formation—the conversion of small, nascent LDs to larger, mature LDs.
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Leptin-replacement therapy for lipodystrophy.
TLDR
Leptin-replacement therapy improved glycemic control and decreased triglyceride levels in patients with lipodystrophy and leptin deficiency and was well tolerated.
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