Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia

Sarcosinemia is an autosomal recessive metabolic trait manifested by relatively high concentrations of sarcosine in blood and urine. Sarcosine is a key intermediate in 1-carbon metabolism and under normal circumstances is converted to glycine by the enzyme sarcosine dehydrogenase. We encountered six families from two different descents (French and Arab), each with at least one individual with elevated levels of sarcosine in blood and urine. Using the “candidate gene approach” we sequenced the gene encoding sarcosine dehydrogenase (SARDH), which plays an important role in the conversion of sarcosine to glycine, and found four different mutations (P287L, V71F, R723X, R514X) in three patients. In an additional patient, we found a uniparental disomy in the region of SARDH gene. In two other patients, we did not find any mutations in this gene. We have shown for the first time that mutations in the SARDH gene are associated with sarcosinemia. In addition, our results indicate that other genes are most probably involved in the pathogenesis of this condition.     

Not everything is everywhere: the distance decay of similarity in a marine host–parasite system

Aim We test the similarity–distance decay hypothesis on a marine host–parasite system, inferring the relationships from abundance data gathered at the lowest scale of parasite community organization (i.e. that of the individual host). Location Twenty‐two seasonal samples of the bogue Boops boops (Teleostei: Sparidae) were collected at seven localities along a coastal positional gradient from the northern North‐East Atlantic to the northern Mediterranean coast of Spain. Methods We used our own, taxonomically consistent, data on parasite communities. The variations in parasite composition and structure with geographical and regional distance were examined at two spatial scales, namely local parasite faunas and component communities, using both presence–absence (neighbour joining distance) and abundance (Mahalanobis distance) data. The influence of geographical and regional distance on faunal/community divergence was assessed through the permutation of distance matrices. Results Our results revealed that: (1) geographical and regional distances do not affect the species composition in the system under study at the higher scales; (2) geographical distance between localities contributes significantly to the decay of similarity estimated from parasite abundance at the lowest scale (i.e. the individual host); (3) the structured spatial patterns are consistent in time but not across seasons; and (4) a restricted clade of species (the ‘core’ species of the bogue parasite fauna) contributes substantially to the observed patterns of both community homogenization and differentiation owing to the strong relationship between local abundance and regional distribution of species. Main conclusions The main factors that tend to homogenize the composition of parasite communities of bogue at higher regional scales are related to the dispersal of parasite colonizers across host populations, which we denote as horizontal neighbourhood colonization. In contrast, the spatial structure detectable in quantitative comparisons only, is related to a vertical neighbourhood colonization associated with larval dispersal on a local level. The stronger decline with distance in the spatial synchrony of the assemblages of the ‘core’ species indicates a close‐echoing environmental synchrony that declines with distance. Our results emphasize the importance of the parasite supracommunity (i.e. parasites that exploit all hosts in the ecosystem) to the decay of similarity with distance.     

The life-cycle of Petasiger islandicus Kostadinova & Skirnisson, 2007 (Digenea: Echinostomatidae) elucidated with the aid of molecular data

The small planorbid snail Gyraulus cf. laevis (Alder) from Lake Myvatn in Iceland was found to emit large-tailed cercariae with 19 collar spines, and three-spined sticklebacks Gasterosteus aculeatus L. were infected with metacercariae of a species of Petasiger Dietz, 1909. Comparative sequence analysis using ND1 mitochondrial DNA sequences revealed that the rediae and cercariae are conspecific with P. islandicus Kostadinova & Skirnisson, 2007, recently described from an isolated population of the horned grebe Podiceps auritus (L.) at the lake. The redia, cercaria and metacercaria are described and compared with related forms.     

In vivo identification of bipotential adipocyte progenitors recruited by β3-adrenoceptor activation and high-fat feeding

Nutritional and pharmacological stimuli can dramatically alter the cellular phenotypes in white adipose tissue (WAT). Utilizing genetic lineage tracing techniques, we demonstrate that brown adipocytes (BA) that are induced by β3-adrenergic receptor activation in abdominal WAT arise from the proliferation and differentiation of cells expressing platelet-derived growth factor receptor alpha (PDGFRα), CD34, and Sca-1 (PDGFRα(+) cells). PDGFRα(+) cells have a unique morphology in which extended processes contact multiple cells in the tissue microenvironment. Surprisingly, these cells also give rise to white adipocytes (WA) that can comprise up to 25% of total fat cells in abdominal fat pads following 8?weeks of high-fat feeding. Isolated PDGFRα(+) cells differentiated into both BA and WA in?vitro and generated WA after transplantation in?vivo. The identification of PDGFRα(+) cells as bipotential adipocyte progenitors will enable further investigation of mechanisms that promote therapeutic cellular remodeling in adult WAT.     

A revision of the Haploporinae Nicoll, 1914 (Digenea: Haploporidae) from mullets (Mugilidae): two new haploporine genera and a key to the genera of the subfamily

Two new haploporine genera are established for parasites of mullets. Ragaia n. g. is erected for R. lizae n. sp. from Liza ramado in the Ebro Delta on the Mediterranean Coast of Spain. This new genus is distinguished by the unique combination of the following characters: a strongly muscular ventral sucker which is twice as large as the oral sucker; a large, muscular hermaphroditic sac similar in length to the ventral sucker; a saccular, thick-walled internal seminal vesicle which is larger than the external seminal vesicle; and the ovary and vitellarium located rather close to the posterior extremity. Pseudodicrogaster n. g. is erected to accommodate Dicrogaster japonica Machida, 1996, as P. japonica (Machida, 1996) n. comb., a parasite of Mugil cephalus L. off Fukaura, Japan. This genus is recognised on the basis of: the tubular condition of both the internal and external seminal vesicles, the latter being much shorter than the former; the sucker ratio; the massive pyriform hermaphroditic sac; the location of the testis; and the presence of two eye-spots in developed miracidia. A key to the nine recognised genera of the Haploporinae is presented.

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A revision of the Haploporinae Nicoll, 1914 (Digenea: Haploporidae) from mullets (Mugilidae): <Emphasis Type="Italic">Saccocoelium</Emphasis> Looss, 1902

Saccocoelium Looss, 1902 is revised and a key to its recognised species is presented. S. obesum Looss, 1902 (type-species) and S. tensum Looss, 1902 are redescribed based on material from Liza spp. (Pisces: Mugilidae) in Spanish Mediterranean and, in the case of the former, Bulgarian Black Sea waters. Two new species, S. cephali n. sp. and S. currani n. sp., are described from Mugil cephalus L. in Spanish Mediterranean waters. S. gohari Ramadan, Saoud, Ashour & Mansour, 1989b is recognised and commented upon. Lecithobotrys helmymohamedi Ramadan, Saoud, Ashour & Mansour, 1989a, S. portsaidensis El-Shahawi, El-Gindy, Imam & Al-Bassel, 1992, S. saoudi El-Shahawi, El-Gindy, Imam & Al-Bassel, 1992, Neosaccocoelium aegyptiacus El-Shahawi, El-Gindy, Imam & Al-Bassel, 1992 are considered to be synonyms of S. tensum and Neosaccocoelium El-Shahawi, El-Gindy, Imam & Al-Bassel, 1992 a synonym of Saccocoelium. S. obesum, S. tensum and the two new species are compared morphometrically and distinguished by univariate and multivariate analyses. Lecithobotrys mugilis Rekharani & Madhavi, 1985 is transferred to Unisaccus Martin, 1973 as U. mugilis (Rekharani & Madhavi, 1985) n. comb., and Lecithobotrys sprenti Martin, 1973 [=  Saccocoelium sprenti (Martin, 1973) Overstreet & Curran, 2005] is transferred to Unisaccus as U. sprenti (Martin, 1973) n. comb. S. megasacculum Liu, Wang, Peng, Yu & Yang, 2004 is transferred to Elliptobursa Wu, Lu & Zhu, 1996 as E. megasacculum (Liu, Wang, Peng, Yu & Yang, 2004) n. comb. S. tripathi Dutta, 1995 (syn. Saccocoelium tripathi Datta & Manna, 1998) is considered to be a species inquirenda.

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A replication stress-induced synchronization method for Arabidopsis thaliana root meristems

Synchronized cell cultures are an indispensable tool for the identification and understanding of key regulators of the cell cycle. Nevertheless, the use of cell cultures has its disadvantages, because it represents an artificial system that does not completely mimic the endogenous conditions that occur in organized meristems. Here, we present a new and easy method for Arabidopsis thaliana root tip synchronization by hydroxyurea treatment. A major advantage of the method is the possibility of investigating available Arabidopsis cell‐cycle mutants without the need to generate cell cultures. As a proof of concept, the effects of over‐expression of a dominant negative allele of the B‐type cyclin‐dependent kinase CDKB1;1 gene on cell‐cycle progression were tested. The previously observed prolonged G₂ phase was confirmed, but was found to be compensated for by a reduced G₁ phase. Furthermore, altered S‐phase kinetics indicated a functional role for CDKB1;1 during the replication process.