A novel mutation in the <Emphasis Type="Italic">AGXT</Emphasis> gene causing primary hyperoxaluria type I: genotype–phenotype correlation

Primary hyperoxaluria type I (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine : glyoxylate aminotransferase (AGT) which is deficient or mistargeted to mitochondria. PH1 shows considerable phenotypic and genotypic heterogeneity. The incidence and severity of PH1 varies in different geographic regions. DNA samples of the affected members from two unrelated Tunisian families were tested by amplifying and sequencing each of the AGXT exons and intron–exon junctions. We identified a novel frameshift mutation in the AGXT gene, the c.406_410dupACTGC resulting in a truncated protein (p.Gln137Hisfs*19). It is found in homozygous state in two nonconsanguineous unrelated families from Tunisia. These molecular findings provide genotype/phenotype correlations in the intrafamilial phenotypic and permit accurate carrier detection, and prenatal diagnosis. The novel p.Gln137Hisfs*19 mutation detected in our study extend the spectrum of known AGXT gene mutations in Tunisia.     

Experimental climate effect on seasonal variability of polyphenol/phenoloxidase interplay along a narrow fen–bog ecological gradient in Sphagnum fallax

Extracellular phenoloxidase enzymes play an important role in the stability of soil carbon storage by contributing to the cycling of complex recalcitrant phenolic compounds. Climate warming could affect peatland functioning through an alteration of polyphenol/phenoloxidase interplay, which could lead them to becoming weaker sinks of carbon. Here, we assessed the seasonal variability of total phenolics and phenoloxidases subjected to 2–3 °C increase in air temperature using open‐top chambers. The measurements were performed along a narrow fen–bog ecological gradient over one growing season. Climate warming had a weak effect on phenoloxidases, but reduced phenolics in both fen and bog areas. Multivariate analyses revealed a split between the areas and also showed that climate warming exacerbated the seasonal variability of polyphenols, culminating in a destabilization of the carbon cycle. A negative relationship between polyphenols and phenoloxidases was recorded in controls and climate treatments suggesting an inhibitory effect of phenolics on phenoloxidases. Any significant decrease of phenolics through repeatedly elevated temperature would greatly impact the ecosystem functioning and carbon cycle through an alteration of the interaction of polyphenols with microbial communities and the production of extracellular enzymes. Our climate treatments did not have the same impact along the fen–bog gradient and suggested that not all the peatland habitats would respond similarly to climate forcing.     

Déroulement des gamétogenèses chez les Crabes Carcinus maenas (L.) et C. mediterraneus Czerniavsky parasités par la Sacculine

A histological study of the gonads and androgenic glands of Carcinus parasitized with Sacculina carcini showed no correlation between the degree of infestation of the gonads by the roots of the parasite and the progressive inhibition of the course of male and female gametogeneses. Also, no correlation could be observed between the degree of degeneration of the androgenic glands and that of the testes.

Modifications in parasitized crab testes essentially involve a degeneration of the mesoderm tissue of the germinative zone; primary gonia become pycnotic after an abnormal development; germ cells already engaged in spermatogenesis become blocked in prophase of meiosis; and ultimately, the testis becomes empty. Progressive degeneration of the androgenic glands, after an initial hypertrophy that starts as early as the internal Sacculina stage, seems related to the disorganization of the neurosecretory centers of the host.

Arrest of spermatogenesis at a more or less advanced stage is probably the result of an imbalance in neurohormonal controls acting directly on the germinative zone or indirectly via the androgenic glands. At the level of the ovaries, parasitic infestation leads to inhibition of the second phase of vitellogenesis possibly due to an abnormality in the organization of the vitellogenic follicles. Hormonal imbalances related to the presence of the parasite appear to be responsible for these phenomena.