Publications by authors named "Bronwen Hughes"

Background: The nuclear-encoded mitochondrial complex I subunit gene, NDUFV2, has been implicated in the pathogenesis of bipolar disorder (BD) in Japanese by virtue of association of variants in its promoter with BD and decreased NDUFV2 messenger ribonucleic acid (mRNA) levels in B lymphoblasts (BLCL) in BD patients compared to controls. We sought to determine if these same changes occur in non-Japanese populations and, if so, their relationship to altered basal intracellular Ca(2+) ([Ca(2+)](B)) in BLCL from BD patients.

Methods: Bipolar disorder patients and healthy subjects included 298 subjects of European Caucasian descent.

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Objective: Phospholipases A2 (PLA2) are a family of enzymes involved in membrane phospholipid metabolism and cell signalling. The gene encoding one form, type VI calcium-independent phospholipase A2, is located in a region of DNA that may contain a gene important in the aetiology of psychosis. Moreover, the activity of calcium-independent PLA2 is reported to be elevated in the blood and brain of patients with schizophrenia.

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Disturbed intracellular calcium (Ca(2+)) homeostasis has been implicated in bipolar disorder (BD). Reduced mRNA levels of the transient receptor potential Ca(2+) permeable channel melastatin type 2, TRPM2, in B lymphoblast cell lines (BLCL) from bipolar I disorder (BD-I) patients showing elevated basal intracellular Ca(2+) ([Ca(2+)](B)), an index of altered intracellular Ca(2+) homeostasis, along with its location within a putative BD susceptibility locus (21q22.3), implicates the involvement of this gene in the Ca(2+) abnormalities and the genetic diathesis to BD.

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The normal vasodilatory response to topically applied methylnicotinate has been reported to be absent or reduced in patients with schizophrenia, a finding thought to be related to aberrant phospholipid metabolism. Previous studies have however failed to measure vasodilation using a direct and objective method. In addition, it is unknown whether methylnicotinate insensitivity is specific to schizophrenia.

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Elevated vasodilatory response (blushing) to social situations is characteristic of social phobia (SP). A relatively unexplored basis for this phenomenon is alteration in underlying vasodilatory mechanisms. To investigate this possibility, we evaluated the vasodilatory response induced by methyl nicotinate (niacin ester derivative) in 31 generalized SP patients and 41 matched healthy volunteers (HV).

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