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Some LMNA mutations may cause lipodystrophy.
Mammals express the Pah1/ Smp2 ortholog, lipin (encoded by LPIN1-3 genes), mutations of which may cause lipodystrophy in the mouse (Garg 2004; Csaki and Reue 2010).
Loss of cavin-3 linkage components may cause lipodystrophy through selective death in adipocytes (Martin et al., 2012); however, lipid mobilizing factors are elevated in the circulation of Cavin-3 KO animals (data not shown), suggesting that lipolysis is responsible for the loss of triglyceride stores.
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We believe that this study represents the most comprehensive analysis of pathogenic mutations in seipin performed so far and reveals significant new information regarding both the oligomeric structure of wild-type human seipin and the potential molecular mechanisms by which different pathogenic mutations may cause severe lipodystrophy.
Preclinical and clinical data suggest that APV has a lower potential to cause lipodystrophy and metabolic abnormalities than other currently available PIs [ 8- 10].
The body composition changes associated with lipodystrophy may cause significant patient distress that could in turn interfere with adherence to antiretroviral therapy.
Our study represents the most comprehensive analysis so far of mutants of seipin causing lipodystrophy and reveals several different molecular mechanisms by which these mutations may cause disease.
This study highlights that specific mutations in seipin are not necessarily explicit to lipodystrophy or Seipinopathy, but that certain mutations may cause both lipodystrophic and neuropathic manifestations.
But it may cause headaches.
May cause shock (algid malaria).
Warning: may cause epiphany!
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