Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy
نویسندگان
چکیده
منابع مشابه
Adipose-specific knockout of SEIPIN/BSCL2 results in progressive lipodystrophy.
Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is the most severe form of human lipodystrophy, characterized by an almost complete loss of adipose tissue and severe insulin resistance. BSCL2 is caused by loss-of-function mutations in the BSCL2/SEIPIN gene, which is upregulated during adipogenesis and abundantly expressed in the adipose tissue. The physiological function of SEIPIN in ...
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Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive condition associating insulin resistance, absence of subcutaneous fat and muscular hypertrophy. Disease-causing mutations have been described in AGPAT2 and BSCL2 genes. Hypertrophic cardiomyopathy is a classical late (third decade) complication which has only been occasionally described in childhood. We report on a ...
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ژورنال
عنوان ژورنال: JCI Insight
سال: 2019
ISSN: 2379-3708
DOI: 10.1172/jci.insight.129781