Molecular scanning of β-3-adrenergic receptor gene in total congenital lipoatrophic diabetes mellitus

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 10, 1997, Pages 3395-3398

  Silver, Kristi ^a,f   Walston, Jeremy ^b   Plotnick, Leslie ^c   Taylor, Simeon I ^d   Kahn, C Ronald ^e   Shuldiner, Alan R ^b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Division of Geriatric Medicine and Gerontology   (United States)

^c Division of Pediatric Endocrinology   (United States)

^d NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^e JOSLIN DIABETES CENTER   (United States)

^f NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA 3 ADRENERGIC RECEPTOR;

ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; INSULIN RESISTANCE; LIPOATROPHIC DIABETES MELLITUS; LIPOATROPHY; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; BASE SEQUENCE; DIABETES MELLITUS, LIPOATROPHIC; FEMALE; HUMANS; INSULIN RESISTANCE; MALE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, ADRENERGIC, BETA; RECEPTORS, ADRENERGIC, BETA-3;

EID: 0030883201     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.10.3395     Document Type: Article

References (16)

1. Flier JS. 1995 Syndromes of insulin resistance and mutant insulin. In: Degroot LJ (ed) Endocrinology, ed 3. Philadelphia: W.B. Saunders Co.; 1592-1604.
2. Van der Vorm ER, Kuipers A, Bonenkamp JW, et al. 1993 Patients with lipodystrophic diabetes mellitus of the Seip-Berardinelli type express normal insulin receptors. Diabetologia. 36:172-174.
3. Desbois-Mouthon C, Magre J, Amselem S, et al. 1995 Lipoatrophic diabetes: genetic exclusion of the insulin receptor gene. J Clin Endocrinol Metab. 80:314-319.
4. Himms-Hagen J. 1990 Brown adipose tissue thermogenesis: interdisciplinary studies. FASEB J. 4:2890-2898.
5. Boucher BJ, Cohen RD, France MW, Mason AS. 1975 Plasma free fatty acid turnover in total lipodystrophy. Clin Endocrinol (Oxf). 4:83-88.
6. Naito C, Togawa K. 1974 A possible role of circulating lipoproteins-triglycerides in the increase in concentration of tree fatty acids and in insulin resistance in total lipodystrophy. J Clin Endocrinol Metab. 39:1030-1037.
7. Boden G. 1997 Role of fatty acids in the pathogenesis of insulin resistance and NIDDM. Diabetes. 46:3-10.
8. Kriauciunas KM, Kahn CR, Muller-Wieland D, Sethu S, Reddy K, Taub R. 1988 Altered expression and function of the insulin receptor in a family with lipoatrophic diabetes. J Clin Endocrinol Metab. 67:1284-1293.
9. Sambrook J, Fritsch EF, Maniatis T. 1989 Molecular cloning. A Laboratory Manual, ed 2. Cold Spring Harbor: Cold Spring Harbor Laboratory Press. 653-654.
10. Shuldiner AR, Perfetti R. 1993 The polymerase chain reaction: applications to endocrine research. In: De Pablo F, Scanes CG, Weintraub B (eds) Handbook of Endocrine Research Techniques, ed 1. San Diego: Academic Press; 457-485.
11. Walston J, Silver K, Bogardus C, et al. 1995 Time of onset of non-insulin-dependent diabetes mellitus and genetic variation of the β3-adrenergic-receptor gene. N Engl J Med. 333:343-347.
12. Silver K, Walston J, Wang Y, Dowse G, Zimmet P, Shuldiner AR. 1996 Molecular scanning for mutations in the βB-adrenergic receptor gene in Nauruans with obesity and noninsulin dependent diabetes mellitus. J Clin Endocrinol Met. 81:4155-4158.
13. 207->Leu mutation in the lipoprotein lipase (LPL) gene. Hum Mol Gen. 1:541.
14. Van Spronsen A, Nahmias C, Krief S, Briend-Sutren MM, Strosberg AD, Emorine LJ. 1993 The promoter and intron/exon structure of the human and mouse β3-adrenergic receptor genes. Fur J Biochem. 213:1117-1124.
15. Holloway BR, Howe R, Rao BS, Stribling D. 1992 ICI D7114:a novel selective adrenoceptor agonist of brown fat and thermogenesis. Am J Clin Nut. 55:262S-264S.
16. Orita M, Suzuki Y, Sekiya T, Hayashi K. 1989 Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 5:874-879.