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1.
An Acad Bras Cienc ; 94(3): e20210894, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35920488

RESUMO

Temporary waters are common environments found in physical and biological substrates. Among them, some bromeliads species are known to hold water in their tanks, in a habitat called phytotelmata. Phytotelmata serve as habitats for several organisms, from bacteria and protists to arthropods and anurans. Peritrich ciliates are often found as epibionts on aquatic invertebrates in these environments. Here, we report two cases of epibiosis involving Lagenophrys sp. attached to ostracods (Elpidium spp.) and Rhabdostyla sp. colonizing hydrachnid mites in the tanks of two bromeliad species. In our analysis, we measured the frequency of epibiosis considering the presence of both basibiont and epibiont in the samples. The results shown a significant difference between Elpidium sp. and Lagenophrys sp. compared to hydrachnid mites and Rhabdostyla sp. (87.5% and 19%, respectively), supported by the Kruskal-Walis test (p = 0.0003, Chi-square = 9.687). These reports are important since the knowledge of phytotelmata communities from tropical and subtropical areas is incipient, although it has been increasing over the last years. It also shows that epibiosis doesn't always represent a beneficial relationship. These two epibiosis systems found in bromeliad tanks raise questions about organism's dispersal throughout other phytotelmata and other temporary water habitats.


Assuntos
Bromeliaceae , Cilióforos , Ácaros , Animais , Brasil , Crustáceos , Invertebrados , Água
2.
Hum Mutat ; 39(12): 1980-1994, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30168660

RESUMO

SH3 and cysteine-rich domain-containing protein 3 (STAC3) is an essential component of the skeletal muscle excitation-contraction coupling (ECC) machinery, though its role and function are not yet completely understood. Here, we report 18 patients carrying a homozygous p.(Trp284Ser) STAC3 variant in addition to a patient compound heterozygous for the p.(Trp284Ser) and a novel splice site change (c.997-1G > T). Clinical severity ranged from prenatal onset with severe features at birth, to a milder and slowly progressive congenital myopathy phenotype. A malignant hyperthermia (MH)-like reaction had occurred in several patients. The functional analysis demonstrated impaired ECC. In particular, KCl-induced membrane depolarization resulted in significantly reduced sarcoplasmic reticulum Ca2+ release. Co-immunoprecipitation of STAC3 with CaV 1.1 in patients and control muscle samples showed that the protein interaction between STAC3 and CaV 1.1 was not significantly affected by the STAC3 variants. This study demonstrates that STAC3 gene analysis should be included in the diagnostic work up of patients of any ethnicity presenting with congenital myopathy, in particular if a history of MH-like episodes is reported. While the precise pathomechanism remains to be elucidated, our functional characterization of STAC3 variants revealed that defective ECC is not a result of CaV 1.1 sarcolemma mislocalization or impaired STAC3-CaV 1.1 interaction.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Substituição de Aminoácidos , Hipertermia Maligna/genética , Miotonia Congênita/genética , Proteínas Adaptadoras de Transdução de Sinal/química , Adolescente , Cálcio/metabolismo , Criança , Pré-Escolar , Acoplamento Excitação-Contração , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Subunidades alfa do Canal de Potássio Ativado por Cálcio de Condutância Alta , Masculino , Hipertermia Maligna/etiologia , Hipertermia Maligna/metabolismo , Miotonia Congênita/complicações , Miotonia Congênita/metabolismo , Linhagem , Fenótipo , Ligação Proteica , Transporte Proteico , Retículo Sarcoplasmático/metabolismo , Índice de Gravidade de Doença , Sequenciamento do Exoma , Adulto Jovem
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