No abstract

Uncoupling protein-1 (UCP1) is uniquely expressed in brown adipose tissue (BAT) and of major importance for the tissues thermogenic capacity. This study was undertaken to detect variants in the UCP1 gene by single strand conformational polymorphism (SSCP) analysis and subsequent sequencing, and determine their potential association with obesity. Four variants predicting for amino acid substitutions were detected, of which Arg40Trp (exon 1) and Lys257Arg (exon 5) were rare mutations. In contrast, the allele frequency of a polymorphism in exon 2 predicting for an Ala64Thr substitution was 8.2% in a cohort of 293 obese children and adolescents compared to 4.1% in 134 lean individuals, while the allele frequency of a Met229Leu variant (exon 5) was not markedly different between the obese (10.4%) and lean (12.0%) study groups. Although one of the identi®ed polymorphisms tends to have a higher frequency in obese than in lean subjects, variants of the UCP1 gene do not seem to contribute signi®cantly to the development of early-onset obesity in the German population.

We did not detect significant differences for allele and carrier frequencies of individual polymorphisms. Together with previously obtained data on genotype distribution of a beta(3)-AR variant in the same study group, no significant differences were found between obese and lean subjects for the distribution of individuals with variants in none, one, two or all three beta-ARs. Our data make it unlikely that polymorphisms in beta-ARs are involved in the pathogenesis of early onset obesity.

Vor einigen dahren haben T a f e l und F r i e d e r i c h s I) mitgeteilt, da13 man in alkoholisch-schwefelsaurer Losnng den Acetessigester elektrolytisch reduzieren kann und da13 dabei pro Molekul nnhezu sechs dtome Wasserstoff verbraucht werden, da13 also die Reduktion nicht nur auf die Ketongruppe, sondern aoch auf die Carboxylgruppe sich erstreckt. Wir haben uns nun bemuht , die Hauptprodukte der elektrolytischen Reduktion von @-Ketonsaureestern zu isolieren, haben aber znniichst statt des Acetessigesters den Benzylacetessigester (I) verwendet, weil zu erwarten stakd, daS bei ihm die Trennuug der Reduktionsprodukte geringere Schwierigkeiten bieten werde als hei jenem.Die Liste der von vornherein moglichen Reduktionsprodulite des Benzylacetessigesters ist sehr groB. Selbst wenn wir von den) mit Sicherheit zu erwartenden Zusammentreten zweier Molekule (z. B. unter Pinakonbildung) und von acetalartigen Korpern absehen, zlhlen wir noch 14 verschiedene Moglichkeiten. Von diesen haben wir in dem Reaktionsprodukt nachgewiesen : FI-Benzyl-y -O x y b u t t e r s a u r e e s t e r (II), B -B e n z y l -N o r m a lb u t t e r s a u r e e s t e r (III), @ -B e n z y la, y -D i k e t o n o r m u l b u t a n (Benzylacetessigaldehyd) (IV) und B enz y l b 11 t y 1-5 t h y 1-a t h e r (V), von denen die beiden letzteren bisher noch nicht bekannt wareu. Das auffallendste und unerwartete Resultat der Untersuchung ist jedoch die Beobachtung, daI3 ein betriichtlicher Teil des Ketonsaureesters vollstandig zum Kohlenwasserstoff, dem bisher ebenfalls unbekannten @ -H e n z y l b n t a n (VI) reduziert w i d CH3 CH3 CH3 C& co IV. . CO CH . OH CHz CH . C7 Hg

Objective: The a 2 -adrenergic receptors are involved in the effects of catecholamines on energy metabolism. Of three known subtypes with differential expression, a 2A -adrenergic receptors are also localized in adipose tissue where they counteract the lipolytic activity of b-adrenergic receptors. This study was undertaken to assess whether variants in the a 2A -adrenergic receptor gene are associated with body weight. Design and methods: Single strand conformation polymorphism (SSCP) screening and subsequent sequencing were applied to determine genetic variants in DNA samples from individuals with obesity, those of normal weight and those underweight. Results: Analysis of the coding region resulted in the identification of an 18 bp deletion, with no other mutation found. Of 429 genotyped subjects, 7 carried the deletion, with no significant differences between lean and obese subjects. A previously identified polymorphism in the promoter of the a 2A -adrenergic receptor gene also did not show an association with any of the tested body weight categories. Conclusion: Our data suggest that variants in the a 2A -adrenergic receptor gene are unlikely to contribute to the predisposition for the lean or obese state.

Hr. Dr. G e o r g R e n g e r ' ) hat vor zwei Jahren auf meine Veraulassung, aber in meiner Abwesenheit diese Produkte einer niiheren Untersuchung unterzogen und insbesondere die Bedingungen festgestellt, unter welchen genugende Mengen eines solchen 01s aus A c e t o u gewonnen werden konnen. Er hat dann die Methode auf M e t h y l -i i t h y l -k e t o n und D i l t h y l -k e t o n angewendet3). Aus den1 Aceton-Produkt hat R e n g e r durch Einwirkung von Brorn i n reichlicher Menge D i i s o p r o p y 1 b l e i -d i b r o m i d, (CS H,)P PbBrr , erhalten, uod er schlol3 hieraus, da13 das 0 1 in der Hauptsache aus T e t r a i s o p r opy 1b l e i bestehe. I) 1;. 89. 3626 [1906]. 3,Siehe die folgende Abhandlung. Inzwischen (B. 42, 3146 [1909] hdie ich die Bildung eines roten 0106 auch am Isoamyl-methyl-keton beohachtet. 2, Dissertation, Wiirzburg 1909. ' ) A. 109, 223 [1659] urid 112, 226 [1859]. a% sill larverhindungen Monoalkylquecksilber Z U ' ve.rmuten. J. pr. 81, 987[1860].

This study examined a possible association of the G>C polymorphism at nucleotide -174 in the promoter region of the interleukin-6 (IL-6) gene (rs1800795) with the prevalence of diabetic complications in 235 patients with type 1 and 498 patients with type 2 diabetes. Genotyping was performed using polymerase chain reaction (PCR) and subsequent cleavage by Nla III restriction endonuclease. Analyzing all diabetic patients together demonstrated that 301 patients (41.1%) carried the GG genotype, 114 (15.6%) the CC genotype, and 318 (43.3%) were heterozygous for the GC genotype. However, there was no correlation of any of the genotypes with the prevalence of diabetic nephropathy or diabetic neuropathy, but subjects with the CC genotype had a significantly higher prevalence of diabetic retinopathy compared to patients with the GC and GG genotype (p=0.016). This association was mainly lost when a logistic regression model was adjusted for diabetes duration (p=0.07). Consistently, a weak but not significant association of the polymorphism with diabetic retinopathy was observed when type 1 and type 2 diabetic patients were analyzed separately (patients with type 1 diabetes: p=0.12; patients with type 2 diabetes: p=0.09). Analogically, no association of the polymorphism was found for diabetic nephropathy or diabetic neuropathy in these groups. In conclusion these data suggest no major influence of the -174G>C variant in the promoter region of the IL-6 gene on the development of microvascular complications in patients with diabetes.

The 94T/G polymorphism in the adiponectin gene is not associated with diabetic complications. The significance of a higher prevalence of the G allele in type 2, compared to type 1 diabetes remains to be clarified.