Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011860 (type 2 diabetes)
 57,723 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A proband with chylomicronemia, pancreatitis, and non-insulin-dependent diabetes (NIDDM) bears two different mutations in exon 3 of the lipoprotein lipase (LPL) gene: a missense mutation, 75Arg-->Ser, inherited through the paternal line and a truncation, 73Tyr-->Ter, through the maternal line. NIDDM appeared to be independently segregating. The R75S mutant was studied in extracts and media from transfected COS-1 cells. Detectable amounts of catalytically competent R75S LPL suggested destabilization of the active homodimer as with exon 5 mutants (Hata et al. 1992. J. Biol. Chem. 267:20132-20139). Hydrolysis of a short-chain fatty acid ester indicated that R75S does not directly affect activation of LPL by apoC-II. Subjects with NIDDM and wild-type LPL, and nondiabetic middle-aged carriers of the 73Tyr-->Ter truncation had moderate hypertriglyceridemia (260-521 mg/dl) and reduced high density lipoprotein cholesterol. A maternal aunt with NIDDM carried the truncation. Her phenotype (triglycerides of 5,300 mg/dl, eruptive xanthomatosis, and recurrent pancreatitis) was as severe as that in homozygotes or compound heterozygotes. We conclude: (a) diabetic carriers of dysfunctional LPL alleles are at risk for severe lipemia; and (b) the physiologic defects in NIDDM may be additive or synergistic with heterozygous LPL deficiency.
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PMID:Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes. 832 86

Numerous skin lesions have been commonly observed in individuals with diabetes mellitus. The common skin manifestations of diabetes mellitus are erythrasma, xanthomatosis, xanthelasma, phycomycetes and cutaneous infections like furuncolosis, candidiasis, carbuncle, dermatophytosis, etc. Diabetic dermopathy is the most common skin lesion found in patients with diabetes. It is typically seen in men aged above 50 years. In low-level laser therapy (LLLT), the entire lower limb was illuminated with the frequency of 20 Hz and wavelength of 830 nm for 9 min, and the treatment was divided into four parts. With the continued sessions of LLLT, the skin manifestations and neuropathy conditions improved drastically. On the 21st day, the skin colour was found to be normal. Also, there were significant changes in clinical findings for diabetic peripheral neuropathy. LLLT with specific exercises can promote healing of skin manifestations in individuals with type 2 diabetes mellitus. It can be used as an effective treatment modality for treating diabetic dermopathy.
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PMID:Influence of low-level laser on pain and inflammation in type 2 diabetes mellitus with diabetic dermopathy - A case report. 2849 77