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Analysis of polymorphisms in the alpha-subunit of the olfactory G-protein Golf in lithium-treated bipolar patients.

OBJECTIVE: This study examines the alpha-subunit of the olfactory G-protein (G(olf)) as a possible candidate gene for bipolar disorder. The alpha-subunit of the G(olf) gene maps to a region on chromosome 18p that has been implicated in several linkage studies as a potential site of a bipolar disorder susceptibility loci. METHODS: We investigated whether two polymorphisms in the alpha-subunit of the G(olf) gene (A-->G in intron 3 and T-->G in intron 10) are associated with bipolar disorder in a sample of 149 bipolar patients under lithium treatment compared with 139 healthy controls using haplotype analysis. RESULTS: There was no evidence for an association between the investigated polymorphisms in the G(olf) gene and bipolar disorders, as well as to response to lithium treatment or common side effects, like hand tremor, weight gain and cognitive dysfunction. CONCLUSION: The results of the present study do not support the hypothesis that the G(olf) gene is a major susceptibility factor for bipolar disorders.

Adult↗

Isolated fetal echogenic intracardiac foci or golf balls: is karyotyping for Down's syndrome indicated?

OBJECTIVE: To determine the prevalence of isolated echogenic intracardiac foci and the subsequent risk for Down's syndrome at 18-23 weeks in an unselected obstetric population. DESIGN: Prospective study. SETTING: A district general hospital serving a routine obstetric population. PARTICIPANTS: 16,917 pregnant women who underwent a routine ultrasound screening at 18-23 weeks of gestation between November 1994 and August 1998. METHODS: All women were offered screening for Down's syndrome by nuchal translucency or maternal serum biochemistry. The prevalence of isolated echogenic intracardiac foci was determined and the relative risk for Down's syndrome was calculated for different ultrasound findings. RESULTS: The combined sensitivity of age, nuchal translucency and maternal serum biochemistry for Down's syndrome was 84% (27/32). The relative risk for Down's syndrome was 0.17 (95% CI 0.07-0.41) for the women with normal scan findings at 18-23 weeks. The prevalence of isolated echogenic intracardiac foci at 18-23 weeks was 0.9% (144/16,917). None of these pregnancies were affected by Down's syndrome. CONCLUSION: The significance of the association between isolated echogenic intracardiac foci and Down's syndrome is a matter of ongoing debate. The data of this study suggest that in an unselected obstetric population with prior, effective, routine Down's syndrome screening, the association between isolated echogenic intracardiac foci and Down's syndrome is no longer significant.

Adult↗

A third report of "golf ball disease" in an Amazon River dolphin (Inia geoffrensis) associated with Streptococcus iniae.

An Amazon River dolphin (Inia geoffrensis) developed a dermatologic syndrome characterized by the occurrence of slow-growing, nodular, s.c. abscesses. Initial biopsies, cultures, and cytologic analysis of needle aspirates from the abscesses indicated steatitis with probable secondary, gram-negative bacterial infection. Treatment with dietary vitamin E supplement and broad-spectrum antibiotics yielded minimal improvement. Subsequent cultures revealed Streptococcus iniae in addition to several gram-negative bacteria. Vigorous surgical management of the abscesses, including lancing, debridement, and irrigation, combined with antimicrobial therapy specific for Streptococcus and gram-negative organisms, and improvement of the animal's diet and environmental water quality led to gradual recovery. When the animal was ill, it demonstrated an inflammatory leukogram and transient uremia. Streptococcus iniae is a serious pathogen of aquacultured fishes and humans and should be included in the differential diagnosis of chronic dermatopathy in river dolphins. Specific antimicrobial therapy, excellent water quality, surgical management of abscesses, and adherence to sanitary protocols should be observed in cases of suspected S. iniae infection in dolphins.

Abscess↗

Golf complements a GPA1 null mutation in Saccharomyces cerevisiae and functionally couples to the STE2 pheromone receptor.

We have produced a plasmid designed for the expression of heterologous G protein alpha subunits in the yeast Saccharomyces cerevisiae. Introduction of these genes is by simple cassette replacement using unique restriction sites, and their expression is controlled by the regulatory sequences of the S. cerevisiae GPA1 gene. Levels of expression are therefore suitable for interaction of these heterologous proteins with elements of the yeast pheromone response pathway. We believe that this plasmid will facilitate the coupling of more members of the seven transmembrane domain superfamily of receptors, through their native G protein alpha subunit, to the yeast pheromone response pathway. The plasmid pRGP, is a stable centromeric shuttle vector with a HIS3-selectable marker. We have demonstrated that production of GPA1 from this plasmid functionally complements a gpal1- null mutation. A similar response is obtained when an alternative G protein alpha subunit, G(olf), is introduced using pRGP. We believe that this is the first example of a heterologous G protein shown to couple to a yeast pheromone receptor.

GTP-Binding Protein alpha Subunits↗