197,232 research outputs found
Pterostichus melas subsp. melas melas (Creutzer 1799
No full textPterostichus melas melas (Creutzer, 1799) Erlinsbach (AG), Egg, 610 m, 642.9/251.8, 11.6.2013: 2 Ind. Nach einem regenreichen Frühjahr in der Nähe des Waldrandes in einer Magerwiese unter Falllaub gefunden. Die Unterart wurde zuletzt 2001 gemeldet. Die Art P. melas ist leicht mit dem häufigen P. melanarius (Illiger, 1798) zu verwechseln.Published as part of Hoess, René, 2016, Interessante Neufunde von Laufkäfern (Coleoptera: Carabidae) aus der Schweiz, pp. 53-67 in Entomo Helvetica 9 on page 65, DOI: 10.5169/seals-986145, http://zenodo.org/record/790117
Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic.
No full textMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome(1) is one of the most frequently inherited mitochondrial disorders. MELAS syndrome is a systemic disease with multiple organ involvement.(2) The most common mutation in MELAS is the m.3243A>G mutation in the MT-TL1 gene.(2)
Relación entre el nivel de heteroplasmia de la mutación m.3243AG en diferentes tejidos y el fenotipo en familias con diabetes y sordera de herencia materna (midd) y melas
No full textEl MELAS y la Diabetes y Sordera de Herencia Materna (MIDD) son enfermedades mitocondriales producidas en la mayor parte de los casos por una misma mutación: la m.3243AG, la cual afecta al gen MT-TL1. Esto muestra la gran variabilidad fenotípica de dicha mutación. Una de las posibles causas de esta variación puede ser el nivel de heteroplasmia de la mutación. Este trabajo se propuso evaluar si existe relación entre el nivel de heteroplasmia en tres tejidos y el fenotipo. Fueron incluidas 3 familias con diagnóstico clínico de MELAS y 2 con diagnóstico clínico de MIDD. Se evaluó la presencia de la mutación y el nivel de heteroplasmia mediante ARMS-qPCR EN sangre, orina y mucosa oral. Una familia con MELAS resultó positiva para la mutación m.3243AG. Se evidenció una gran variabilidad fenotípica. El probando tenía una mayor heteroplasmia en los 3 tejidos en comparación con sus familiares oligosintomáticos. Se reporta el primer paciente en Colombia con MELAS y la mutación m.3271TC y se realizó un análisis de estas familiasAbstract. MELAS and Maternally Inherited Diabetes and Deafness (MIDD) are mitochondrial diseases produced in most cases by the same mutation: m.3243AG, which affects the MT-TL1 gene. This reveals the great phenotypic variability of this mutation. One of the possible causes of this could be the mutation´s heteroplasmy level. This project aimed to assess if there is a relation between the heteroplasmy level in three tissues and the phenotype. 3 families with a clinical diagnosis of MELAS and 2 families with a clinical diagnosis of MIDD were included. The presence and heteroplasmy level of the mutation were assessed via ARMS-qPCR on blood, urine and oral mucosa. One family with MELAS rendered positive for the m.3243AG mutation. A great phenotypic variation was found. The proposita had a greater heteroplasmy level in all 3 tissues compared to her oligosymptomatic relatives. The first Colombian patient with MELAS and the m.3271TC mutation is reported. These families were further analyzed.Maestrí
MERRF/MELAS overlap syndrome: A double pathogenic mutation in mitochondrial tRNA genes
No full textBackground : Myoclonic epilepsy with ragged-red fibres (MERRF) and mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are established phenotypes of mitochondrial encephalomyopathy. The m.8356T>C transition in the mitochondrial tRNALys gene is a pathogenic mutations of MERRF. The m.3243A>G transition in the mitochondrial tRNALeu gene is detected in most MELAS patients. Although previous analyses of double mutations in mitochondrial DNA (mtDNA) were useful for discussing their nature, many unsolved questions remain. Objective : To describe the clinical and genetic features of a family with the above mtDNA double-point mutations and discuss the role of double mtDNA mutations in diverse clinical features in the family. Patients and methods : The proband was a 23-year-old woman with MERRF harbouring m.8356T>C and m.3243A>G transitions in mitochondrial tRNA genes. We assessed clinical aspects of her and those of her three relatives and performed mutation analyses on their mtDNA. Results : Phenotypes of the four patients were MERRF, MERRF/MELAS overlap syndrome and asymptomatic carrier. We hypothesise that the course of the phenotype of this family begins with MERRF and is followed by MELAS. This double mutation was heteroplasmic in blood of all four patients but with different rates in each patient, while m.8356T>C appeared homoplasmic and m.3243A>G was heteroplasmic in muscle of the two examined cases. No other mutations were detected in the total mtDNA sequence in this family. Conclusions : This is the first reported case of a double-point mutation in mtDNA, both of which were heteroplasmic and pathogenic for the established phenotypes
VITA REVERENDI D.|| PRAECEPTORIS || Philippi Melantho=||NIS, PIAE ET SANCTAE || MEMORIAE, GRAECO CAR=||mine, quàm breuissime è latina descriptione || Doctiss. viri IOACHIMI CAME=||RARII excerpta & com-||prehensa.|| ADDITVM QVOQVE EST AD FI-||nem colloquium Christi cum duobus suis disci-||pulis Luthero et Philippo vnà || ambulantibus.|| AVCTORE || Iohanne Melane Lesnicensi.|| ... ||
No full textVorlageform des Erscheinungsvermerks: VITEBERGAE.||(Excudebat Iohannes || Crato,|| ANNO || M. D. LXXI.||)Melas, Johannes: Colloquium Christi cum duobus suis discipulis Luthero et Philippo una ambulantibus . (VD16 M 4436
Fraudatrix melas
No full text<i>Fraudatrix melas</i> (Eggers) <p> <i>Xyleborus melas</i> Eggers, 1927: 93.</p> <p> <i>Coptoborus melas</i> (Eggers): Wood & Bright 1992: 663.</p> <p> <i>Fraudatrix melas</i> (Eggers): Cognato <i>et al</i>. 2020: 546.</p> <p>Schedl (1972) reported this species from Tutuila. It is otherwise recorded only from the Philippines and China (Hong Kong), and Schedl’s record may be a misidentification.</p> <p>Current survey records: Not found in current survey.</p>Published as part of <i>Rabaglia, Robert J., Beaver, Roger A., Johnson, Andrew J., Schmaedick, Mark A. & Smith, Sarah M., 2020, The bark and ambrosia beetles (Coleoptera: Curculionidae: Scolytinae and Platypodinae) of American Samoa, pp. 171-195 in Zootaxa 4808 (1)</i> on page 181, DOI: 10.11646/zootaxa.4808.1.11, <a href="http://zenodo.org/record/3927891">http://zenodo.org/record/3927891</a>
Identification of a novel variant in MT-CO3 causing MELAS.
No full textMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited mitochondrial disease. Most cases of MELAS are caused by the m.3243A > G variant in the MT-TL1 gene encoding tRNALeu((UUR)). However, the genetic cause in 10% of patients with MELAS is unknown. We investigated the pathogenicity of the novel mtDNA variant m.9396G > A/MT-CO3 (p.E64K), which affects an extremely conserved amino acid in the CO3 subunit of mitochondrial respiratory chain (MRC) complex IV (CIV) in a patient with MELAS. Biochemical assays of a muscle biopsy confirmed remarkable CIV deficiency, and pathological examination showed ragged red fibers and generalized COX non-reactive muscle fibers. Transfer of the mutant mtDNA into cybrids impaired CIV assembly, followed by remarkable mitochondrial dysfunction and ROS production. Our findings highlight the pathogenicity of a novel m.9396G > A variant and extend the spectrum of pathogenic mtDNA variants
Image_1_mt tRFs, New Players in MELAS Disease.TIF
No full textMELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is an OXPHOS disease mostly caused by the m.3243A>G mutation in the mitochondrial tRNALeu(UUR) gene. Recently, we have shown that the mutation significantly changes the expression pattern of several mitochondrial tRNA-derived small RNAs (mt tsRNAs or mt tRFs) in a cybrid model of MELAS and in fibroblasts from MELAS patients versus control cells. Among them are those derived from mt tRNA LeuUUR containing or not the m.3243A>G mutation (mt 5′-tRF LeuUUR-m.3243A>G and mt 5′-tRF LeuUUR), whose expression levels are, respectively, increased and decreased in both MELAS cybrids and fibroblasts. Here, we asked whether mt 5′-tRF LeuUUR and mt 5′-tRF LeuUUR-m.3243A>G are biologically relevant and whether these mt tRFs are detected in diverse patient samples. Treatment with a mimic oligonucleotide of mt tRNA LeuUUR fragment (mt 5′-tRF LeuUUR) showed a therapeutic potential since it partially restored mitochondrial respiration in MELAS cybrids. Moreover, these mt tRFs could be detected in biofluids like urine and blood. We also investigated the participation of miRNA pathway components Dicer and Ago2 in the mt tRFs biogenesis process. We found that Dicer and Ago2 localize in the mitochondria of MELAS cybrids and that immunoprecipitation of these proteins in cytoplasm and mitochondria fractions revealed an increased mt tRF/mt tRNA ratio in MELAS condition compared to WT. These preliminary results suggest an involvement of Dicer and Ago2 in the mechanism of mt tRF biogenesis and action.</p
Table_1_mt tRFs, New Players in MELAS Disease.XLSX
No full textMELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is an OXPHOS disease mostly caused by the m.3243A>G mutation in the mitochondrial tRNALeu(UUR) gene. Recently, we have shown that the mutation significantly changes the expression pattern of several mitochondrial tRNA-derived small RNAs (mt tsRNAs or mt tRFs) in a cybrid model of MELAS and in fibroblasts from MELAS patients versus control cells. Among them are those derived from mt tRNA LeuUUR containing or not the m.3243A>G mutation (mt 5′-tRF LeuUUR-m.3243A>G and mt 5′-tRF LeuUUR), whose expression levels are, respectively, increased and decreased in both MELAS cybrids and fibroblasts. Here, we asked whether mt 5′-tRF LeuUUR and mt 5′-tRF LeuUUR-m.3243A>G are biologically relevant and whether these mt tRFs are detected in diverse patient samples. Treatment with a mimic oligonucleotide of mt tRNA LeuUUR fragment (mt 5′-tRF LeuUUR) showed a therapeutic potential since it partially restored mitochondrial respiration in MELAS cybrids. Moreover, these mt tRFs could be detected in biofluids like urine and blood. We also investigated the participation of miRNA pathway components Dicer and Ago2 in the mt tRFs biogenesis process. We found that Dicer and Ago2 localize in the mitochondria of MELAS cybrids and that immunoprecipitation of these proteins in cytoplasm and mitochondria fractions revealed an increased mt tRF/mt tRNA ratio in MELAS condition compared to WT. These preliminary results suggest an involvement of Dicer and Ago2 in the mechanism of mt tRF biogenesis and action.</p
Image_2_mt tRFs, New Players in MELAS Disease.TIF
No full textMELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is an OXPHOS disease mostly caused by the m.3243A>G mutation in the mitochondrial tRNALeu(UUR) gene. Recently, we have shown that the mutation significantly changes the expression pattern of several mitochondrial tRNA-derived small RNAs (mt tsRNAs or mt tRFs) in a cybrid model of MELAS and in fibroblasts from MELAS patients versus control cells. Among them are those derived from mt tRNA LeuUUR containing or not the m.3243A>G mutation (mt 5′-tRF LeuUUR-m.3243A>G and mt 5′-tRF LeuUUR), whose expression levels are, respectively, increased and decreased in both MELAS cybrids and fibroblasts. Here, we asked whether mt 5′-tRF LeuUUR and mt 5′-tRF LeuUUR-m.3243A>G are biologically relevant and whether these mt tRFs are detected in diverse patient samples. Treatment with a mimic oligonucleotide of mt tRNA LeuUUR fragment (mt 5′-tRF LeuUUR) showed a therapeutic potential since it partially restored mitochondrial respiration in MELAS cybrids. Moreover, these mt tRFs could be detected in biofluids like urine and blood. We also investigated the participation of miRNA pathway components Dicer and Ago2 in the mt tRFs biogenesis process. We found that Dicer and Ago2 localize in the mitochondria of MELAS cybrids and that immunoprecipitation of these proteins in cytoplasm and mitochondria fractions revealed an increased mt tRF/mt tRNA ratio in MELAS condition compared to WT. These preliminary results suggest an involvement of Dicer and Ago2 in the mechanism of mt tRF biogenesis and action.</p
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