Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder associated with marked obesity. Research in rare forms of obesity has identified genes with significant roles in common obesity etiology. To date, 11 BBS genes have been cloned (BBS1-BBS11). However, the function of BBS genes in adipogenesis is unknown. Moreover, not all BBS genes have been shown to be expressed in adipose tissue. The aim of our study was to investigate the expression of BBS genes throughout adipogenesis. 3T3-F442A preadipocyte cells were harvested throughout the adipogenesis process (from day 1 to 8) at 1-day intervals. Levels of BBS genes transcripts were analyzed by quantitative real-time polymerase chain reaction (PCR). Additionally, transcript levels of BBS5-9 and BBS11 were studied in mouse (C57BL/6) adipose tissue. We have shown for the first time that BBS5-9 and BBS11 are expressed in adipose tissue. Significant variations in the transcript levels of the BBS genes were identified throughout adipogenesis. Compared to the their levels in non-differentiated preadipocytes, transcript levels of BBS1-4, 6-9 and 11 were significantly augmented through differentiation, reaching maximum values at day 3 (BBS1-4, 6-8) and 4 (BBS9 and 11) by 3.5, 4, 2.9, 3, 5, 1.9, 2, 2.9 and 2.6-fold, respectively. These findings show for the first time a unique, temporal and synchronized expression of BBS genes during adipogenesis. These findings highlight the importance of BBS genes functional studies in adipogenesis.
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PMID:Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. 1737 67

Limb-girdle muscular dystrophy (LGMD) 2H is a slowly progressive condition characterized by proximal weakness, atrophy, and mildly to moderately raised levels of creatine kinase. Facial weakness, scapular winging, hypertrophied calves, and Achilles tendon contractions are not uncommon and the age of onset ranges between the first and fourth decade. LGMD2H was originally described in the Hutterite population that resides in central Canada and the Dakotas of the USA. LGMD2H was mapped to a specific mutation in the TRIM32 gene and it has subsequently been shown that the same mutation also results in the "sarcotubular myopathy" syndrome, which was described histopathologically. TRIM32 appears to be an E3 ubiquitin ligase, containing the tripartite motif common to this family of proteins (RING finger, B-box, coiled-coil). A few substrates have been identified, including actin and dysbindin. Recent studies have identified additional mutations in the C-terminal region of TRIM32 that result in a dystrophic myopathy. Although TRIM32 appears to be expressed ubiquitously, it is still not clear why certain mutations of TRIM32 would result in a phenotype relatively restricted to skeletal muscle. A mutation in the B-box region of TRIM32 has also been shown to result in a more pleiotropic disorder, Bardet-Biedl Syndrome (BBS11). This disorder is associated with obesity, retinopathy, diabetes, polydactyly, renal abnormalities, learning disability, and hypogenitalism. It is likely that C-terminal mutations in TRIM32 affect the ability of muscle proteins to be degraded by the ubiquitin-proteasome pathway.
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PMID:Limb-girdle muscular dystrophy 2H and the role of TRIM32. 2149 29