Effects of two paralytic shellfish toxin producing dinoflagellates on the pelagic harpacticoid copepod Euterpina acutifrons

9 páginas, 6 figurasThe effects of two paralytic shellfish toxin (PST) producing dinoflagellates, Alexandrium minutum Halim (high and low toxin strains) and Gymnodinium catenatum Graham, on the pelagic harpacticoid copepod Euterpina acutifrons Dana were tested in a series of experiments run from October 1994 to May 1995. In small volumes (350 ml), both strains of A. minutum (300 to 350 cells ml-1), and G. catenatum (175 cells ml-1), strongly reduced naupliar activity (about 30 and 17% were inactive after 24 h, respectively). Activity is here defined as movement. In medium volumes (6 litre), 40% of nauplii incubated with the high toxin strain of A. minutum (1000 cells ml-1) and 8% of nauplii incubated with cell-free filtrate of the same culture were inactive after 24 h; these values increased to 50 and 30% respectively after 3 d. In large volumes (20 litre), adult copepods incubated with A. minutum (1000 and 10000 cells ml-1) for 5 d revealed only trace levels of PSP-toxins (paralytic shellfish poisoning) in the extracts analysed by HPLC. With both strains of A. minutum (1000 and 10000 cells ml-1), 10 to 15% of the copepods were inactive after 1 to 2 d. It is suggested that E. acutifrons avoids feeding on the dinoflagellates after tasting a few cells, but that the dinoflagellates may exude toxins or other substances that affect the copepods. The inactivating effect of the toxic dinoflagellates on the nauplii was more rapid and stronger than on adult copepods, although strong inactivation and death were also observed in adults with time (up to 80% were inactive after 5 d of incubation with A. minutum). Still, in our experiments a considerable proportion of adult females incubated with the toxic dinoflagellates remained active and were able to produce viable eggs for several days.This study was supported with funds from Projects 11.02 of the Instituto Español de Oceanografia and ALI 92-0111-C02-01 of CICYTPeer reviewe

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

BackgroundRecessive mutant alleles of MYO7A, USH1C, CDH23, and PCDH15 cause non-syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness, vestibular areflexia, and vision loss due to retinitis pigmentosa. For CDH23, encoding cadherin 23, non-syndromic DFNB12 deafness is associated primarily with missense mutations hypothesised to have residual function. In contrast, homozygous nonsense, frame shift, splice site, and some missense mutations of CDH23, all of which are presumably functional null alleles, cause USH1D. The phenotype of a CDH23 compound heterozygote for a DFNB12 allele in trans configuration to an USH1D allele is not known and cannot be predicted from current understanding of cadherin 23 function in the retina and vestibular labyrinth.Methods and resultsTo address this issue, this study sought CDH23 compound heterozygotes by sequencing this gene in USH1 probands, and families segregating USH1D or DFNB12. Five non-syndromic deaf individuals were identified with normal retinal and vestibular phenotypes that segregate compound heterozygous mutations of CDH23, where one mutation is a known or predicted USH1 allele.ConclusionsOne DFNB12 allele in trans configuration to an USH1D allele of CDH23 preserves vision and balance in deaf individuals, indicating that the DFNB12 allele is phenotypically dominant to an USH1D allele. This finding has implications for genetic counselling and the development of therapies for retinitis pigmentosa in Usher syndrome.Accession numbersThe cDNA and protein Genbank accession numbers for CDH23 and cadherin 23 used in this paper are AY010111.2 and AAG27034.2, respectively

Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness

BackgroundInherited retinal diseases are uncommon, and the likelihood of having more than one hereditary disorder is rare. Here, we report a case of Stargardt disease and congenital stationary night blindness (CSNB) in the same patient, and the identification of two novel in-frame deletions in the GRM6 gene.Materials and methodsThe patient underwent an ophthalmic exam and visual function testing including: visual acuity, color vision, Goldmann visual field, and electroretinography (ERG). Imaging of the retina included fundus photography, spectral-domain optical coherence tomography (OCT), and fundus autofluorescence. Genomic DNA was PCR-amplified for analysis of all coding exons and flanking splice sites of both the ABCA4 and GRM6 genes.ResultsA 46-year-old woman presented with recently reduced central vision and clinical findings of characteristic yellow flecks consistent with Stargardt disease. However, ERG testing revealed an ERG phenotype unusual for Stargardt disease but consistent with CSNB1. Genetic testing revealed two previously reported mutations in the ABCA4 gene and two novel deletions in the GRM6 gene.ConclusionsDiagnosis of concurrent Stargardt disease and CSNB was made on the ophthalmic history, clinical examination, ERG, and genetic testing. This case highlights that clinical tests need to be taken in context, and that co-existing retinal dystrophies and degenerations should be considered when clinical impressions and objective data do not correlate

Effects of two paralytic shellfish toxin producing dinoflagellates on the harpacticoid copepod Euterpina acutifrons

The effects of two paralytic shellfish toxin (PST) producing dinoflagellates, Alexandrium minutum Halim (high and low toxin strains) and Gymnodinium catenatum Graham, on the pelagic harpacticoid copepod Euterpina acutifrons Dana were tested in a series of experiments run from October 1994 to May 1995. In small volumes (350 ml), both strains of A. minutum (300 to 350 cells ml-1), and G. catenatum (175 cells ml-1), strongly reduced naupliar activity (about 30 and 17% were inactive after 24 h, respectively). Activity is here defined as movement. In medium volumes (6 litre), 40% of nauplii incubated with the high toxin strain of A. minutum (1000 cells ml-1) and 8% of nauplii incubated with cell-free filtrate of the same culture were inactive after 24 h; these values increased to 50 and 30% respectively after 3 d. In large volumes (20 litre), adult copepods incubated with A. minutum (1000 and 10000 cells ml-1) for 5 d revealed only trace levels of PSP-toxins (paralytic shellfish poisoning) in the extracts analysed by HPLC. With both strains of A. minutum (1000 and 10000 cells ml-1), 10 to 15% of the copepods were inactive after 1 to 2 d. It is suggested that E. acutifrons avoids feeding on the dinoflagellates after tasting a few cells, but that the dinoflagellates may exude toxins or other substances that affect the copepods. The inactivating effect of the toxic dinoflagellates on the nauplii was more rapid and stronger than on adult copepods, although strong inactivation and death were also observed in adults with time (up to 80% were inactive after 5 d of incubation with A. minutum). Still, in our experiments a considerable proportion of adult females incubated with the toxic dinoflagellates remained active and were able to produce viable eggs for several daysPublicado