Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

An increasing number of genes required for mitochondrial biogenesis, dynamics, or function have been found to be mutated in metabolic disorders and neurological diseases such as Leigh Syndrome. In a forward genetic screen to identify genes required for neuronal function and survival in Drosophila photoreceptor neurons, we have identified mutations in the mitochondrial methionyl-tRNA synthetase, Aats-met, the homologue of human MARS2. The fly mutants exhibit age-dependent degeneration of photoreceptors, shortened lifespan, and reduced cell proliferation in epithelial tissues. We further observed that these mutants display defects in oxidative phosphorylation, increased Reactive Oxygen Species (ROS), and an upregulated mitochondrial Unfolded Protein Response. With the aid of this knowledge, we identified MARS2 to be mutated in Autosomal Recessive Spastic Ataxia with Leukoencephalopathy (ARSAL) patients. We uncovered complex rearrangements in the MARS2 gene in all ARSAL patients. Analysis of patient cells revealed decreased levels of MARS2 protein and a reduced rate of mitochondrial protein synthesis. Patient cells also exhibited reduced Complex I activity, increased ROS, and a slower cell proliferation rate, similar to Drosophila Aats-met mutants.

Fracture resistance of endodontically treated teeth restored with different intraradicular posts with different lengths

Aim: This study compared the resistance to fracture of endodontically treated teeth restored with different intraradicular posts with different lengths and full coverage metallic crowns. Methods: Sixty extracted human canine teeth were randomly divided into 6 groups. Groups CP5, CP75 and CP10 were restored using custom cast post and core (CP) and groups PF5, PF75 and PF10 were restored with provisional pre-fabricated tin post (PF) and composite resin core at 5 mm, 7.5 mm and 10 mm of intraradicular length, respectively. The specimens were submitted to dynamic cyclic loading and those that resisted to this load were submitted to load compression using a universal testing machine. Compressive load was applied at a 45-degree angle to the long axis of the tooth until failure. Results: Kruskal-Wallis one-way analysis of variance by ranks showed statistically significant differences among the groups (p<0.0001). However, when the means were compared using the Tukey’s test, significant differences were noted between groups CP5 and CP10 and between groups CP10 and PF5. All groups presented root fractures and post displacements during mechanical cycling. All teeth in groups CP5 and PF5 failed the dynamic cycling test. Conclusions: This study showed that increasing intraradicular post length also increases resistance to fracture of endodontically treated teeth. On the other hand, most endodontically treated teeth restored with pre-fabricated tin posts (provisional posts) failed in the dynamic cycling test

Tidal perturbations of the rotation of the moon: the creep tide approach

In this communication we report results from the application to the study of the rotation of the Moon of the creeping tide theory just proposed (Ferraz-Mello, Cel. Mech. Dyn. Astron., submitted. ArXiv astro-ph 1204.3957). The choice of the Moon for the first application of this new theory is motivated by the fact that the Moon is one of the best observed celestial bodies and the comparison of the theoretical predictions of the theory with observations i may validate the theory or point out the need of further improvements. Particularly, the tidal perturbations of the rotation of the Moon - the physical libration of the Moon - have been detected in the Lunar Laser Ranging measurements (Williams et al. JGR 106, 27933, 2001). The major difficulty in this application comes from the fact that tidal torques in a planet-satellite system are very sensitive to the distance between the two-bodies, which is strongly affected by Solar perturbations. In the case of the Moon, the main solar perturbations - the Evection and the Variation - are more important than most of the Keplerian oscillations, being smaller only than the first Keplerian harmonic (equation of the centre). Besides, two of the three components of the Moon's libration in longitude whose tidal contributions were determined by LLR are related to these perturbations. The results may allow us to determine the main parameter of a possible Moon's creeping tide. The preliminary results point to a relaxation factor (gamma) 2 to 4 times smaller than the one predicted from the often cited values of thr Moon's quality factor Q (between 30 and 40), and points to larger Q values.

Ontogenetic and evolutionary change of external morphology of the neotropical shrimp potimirim (Holthuis, 1954) explained by a molecular phylogeny of the genus

A phylogenetic analysis of a fragment of the mitochondrial gene 16S was used to test the monophyletic status of Potimirim. Existing doubts on the taxonomic status of brasiliana (once P glabra) and P potimirim (once P mexicana) were clarified. Potimirim mexicana and P potimirim are distinct species according to molecular data and appendix masculina morphology. A new species (Potimirim sp. 1) from Puerto Rico was revealed with molecular data, and it is evolutionarily related to P potimirim and P mexicana according to our analysis. We found out three distinct species under the name P glabra. Then, we recommend the application of the name P glabra for the populations of the Pacific slope of Central America and revalidation of P brasiliana for the Brazilian ones. The need for a new name to those "P glabra" of the Caribbean is highlighted, and it was provisionally referred as Potimirim sp. 2. The ontogenetic (juveniles to adults) development of the appendix masculina of P brasiliana was observed and compared to the other species of Potimirim (adults). In the light of our phylogenetic hypothesis, we postulate a pattern of character addition for the evolution of the appendix masculina of Potimirim. This hypothesis is plausible for two key reasons. First. Potimirim is a monophyletic group according to our hypothesis. Second, the shape of appendix masculina found in adults of P. americana is similar and comparable to those found in the earliest juvenile stages of P brasiliana, a derived species according to our phylogeny (P americana, ((P mexicana, Potimirim sp. 1. P potimirim), (P glabra, (brasiliana, Potimirim sp. 2)))). As so, the basal P americana retain the ancestral morphological state of the appendix masculina when compared to the other species of Potimirim. In our interpretation the ontogeny of the appendix masculina recapitulated the proposed phylogeny, giving further support to it.