scholarly journals Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study

2021 ◽  
Vol 22 (11) ◽  
pp. 5598
Author(s):  
Sara Laine-Menéndez ◽  
Cristina Domínguez-González ◽  
Alberto Blázquez ◽  
Aitor Delmiro ◽  
Inés García-Consuegra ◽  
...  

Our goal was to analyze postmortem tissues of an adult patient with late-onset thymidine kinase 2 (TK2) deficiency who died of respiratory failure. Compared with control tissues, we found a low mtDNA content in the patient’s skeletal muscle, liver, kidney, small intestine, and particularly in the diaphragm, whereas heart and brain tissue showed normal mtDNA levels. mtDNA deletions were present in skeletal muscle and diaphragm. All tissues showed a low content of OXPHOS subunits, and this was especially evident in diaphragm, which also exhibited an abnormal protein profile, expression of non-muscular β-actin and loss of GAPDH and α-actin. MALDI-TOF/TOF mass spectrometry analysis demonstrated the loss of the enzyme fructose-bisphosphate aldolase, and enrichment for serum albumin in the patient’s diaphragm tissue. The TK2-deficient patient’s diaphragm showed a more profound loss of OXPHOS proteins, with lower levels of catalase, peroxiredoxin 6, cytosolic superoxide dismutase, p62 and the catalytic subunits of proteasome than diaphragms of ventilated controls. Strong overexpression of TK1 was observed in all tissues of the patient with diaphragm showing the highest levels. TK2 deficiency induces a more profound dysfunction of the diaphragm than of other tissues, which manifests as loss of OXPHOS and glycolytic proteins, sarcomeric components, antioxidants and overactivation of the TK1 salvage pathway that is not attributed to mechanical ventilation.

Zygote ◽  
2019 ◽  
Vol 28 (2) ◽  
pp. 170-173
Author(s):  
Thaís T.S. Souza ◽  
Maria J.B. Bezerra ◽  
Maurício F. van Tilburg ◽  
Celso S. Nagano ◽  
Luciana D. Rola ◽  
...  

SummaryThe aim of this study was to characterize the protein profile of ovarian follicular fluid (FF) of brown brocket deer (Mazama gouazoubira). Five adult females received an ovarian stimulation treatment and the FF was collected by laparoscopy from small/medium (≤3.5 mm) and large (>3.5 mm) follicles. Concentrations of soluble proteins in FF samples were measured and proteins were analyzed by 1-D SDS-PAGE followed by tryptic digestion and tandem mass spectrometry. Data from protein list defined after a Mascot database search were analyzed using the STRAP software tool. For the protein concentration, no significant difference (P > 0.05) was observed between small/medium and large follicles: 49.2 ± 22.8 and 56.7 ± 27.4 μg/μl, respectively. Mass spectrometry analysis identified 13 major proteins, but with no significant difference (P > 0.05) between follicle size class. This study provides insight into elucidating folliculogenesis in brown brocket deer.


2013 ◽  
Vol 64 (3) ◽  
pp. 171-180b ◽  
Author(s):  
Karel Breiter ◽  
Nina Gardenová ◽  
Viktor Kanický ◽  
Tomáš Vaculovič

Abstract Contents of Ga and Ge in granites, rhyolites, orthogneisses and greisens of different geochemical types from the Bohemian Massif were studied using inductively coupled plasma mass spectrometry analysis of typical whole-rock samples. The contents of both elements generally increase during fractionation of granitic melts: Ga from 16 to 77 ppm and Ge from 1 to 5 ppm. The differences in Ge and Ga contents between strongly peraluminous (S-type) and slightly peraluminous (A-type) granites were negligible. The elemental ratios of Si/1000Ge and Al/1000Ga significantly decreased during magmatic fraction: from ca. 320 to 62 and from 4.6 to 1.2, respectively. During greisenization, Ge is enriched and hosted in newly formed hydrothermal topaz, while Ga is dispersed into fluid. The graph Al/Ga vs. Y/Ho seems to be useful tool for geochemical interpretation of highly evolved granitoids.


2017 ◽  
Vol 31 (1-2) ◽  
pp. 23-33
Author(s):  
Rosene Salmo ◽  
Peter T. Palmer ◽  
Karuk Tribe

Abstract This study describes the use of three different nondestructive methods to determine whether or not nine artifacts belonging to the Karuk Tribe had been treated with common inorganic and organic pesticide agents. A portable X-Ray Fluorescence analyzer was used to estimate the concentrations of arsenic, mercury, and lead at two different locations on each artifact. Black beads on a necklace were found to contain 2.1% lead and 0.23% arsenic, which can be attributed to the natural composition of the beads. Leather on a drum mallet was found to contain 0.49% lead and 0.10% arsenic, which were due to the pigments used to decorate this item. Microwave Plasma-Atomic Emission Spectrometry analysis of swab samples taken from the surfaces of an elk horn, bow, and musical drum showed nondetectable levels of arsenic and lead. Gas Chromatography/Mass Spectrometry analysis of a second set of swab samples taken from the surface of each artifact showed nondetectable levels of p-dichlorobenzene, naphthalene, dichlorodiphenyltrichloroethane, and other common organic pesticides. These results suggest that these artifacts were not treated with pesticides for preservation purposes, and hence they can be handled, worn, and used as intended.


Nutrients ◽  
2020 ◽  
Vol 12 (11) ◽  
pp. 3397
Author(s):  
Domenico Trombetta ◽  
Antonella Smeriglio ◽  
Marcella Denaro ◽  
Roberto Zagami ◽  
Mara Tomassetti ◽  
...  

Background: Almond kernels contain phytochemicals with positive health effects in relation to heart disease, diabetes and obesity. Several studies have previously highlighted that almond cell wall encapsulation during digestion and particle size are factors associated with these benefits. In the present study, we have characterized almond oleosomes, natural oil droplets abundant in plants, and we have investigated their integrity during simulated gastrointestinal digestion. Methods: Oleosomes were visualized on the almond seed surface by imaging mass spectrometry analysis, and then characterized in terms of droplet size distribution by dynamic light scattering and protein profile by liquid chromatography high-resolution tandem mass spectrometry analysis. Results: The almond oleosomes’ distribution remained monomodal after in vitro mastication, whereas gastric and duodenal digestion led to a bimodal distribution, albeit characterized mainly by a prevalent population with a droplet size decrease related to a rearrangement of the protein profile. Oleosins, structural proteins found in plant oil bodies, persisted unchanged during simulated mastication, with the appearance of new prunin isoforms after gastric and duodenal digestion. Conclusions: The rearrangement of the protein profile could limit lipid bioaccessibility. The data improve our understanding of the behavior of almond lipids during gastrointestinal digestion, and may have implications for energy intake and satiety imparted by almonds.


1988 ◽  
Vol 249 (3) ◽  
pp. 779-788 ◽  
Author(s):  
P S Freemont ◽  
B Dunbar ◽  
L A Fothergill-Gilmore

The complete amino acid sequence of human skeletal-muscle fructose-bisphosphate aldolase, comprising 363 residues, was determined. The sequence was deduced by automated sequencing of CNBr-cleavage, o-iodosobenzoic acid-cleavage, trypsin-digest and staphylococcal-proteinase-digest fragments. Comparison of the sequence with other class I aldolase sequences shows that the mammalian muscle isoenzyme is one of the most highly conserved enzymes known, with only about 2% of the residues changing per 100 million years. Non-mammalian aldolases appear to be evolving at the same rate as other glycolytic enzymes, with about 4% of the residues changing per 100 million years. Secondary-structure predictions are analysed in an accompanying paper [Sawyer, Fothergill-Gilmore & Freemont (1988) Biochem. J. 249, 789-793].


1977 ◽  
Vol 165 (1) ◽  
pp. 165-167 ◽  
Author(s):  
T P Walsh ◽  
F M Clarke ◽  
C J Masters

The kinetic parameters of fructose bisphosphate aldolase (EC 4.1.2.13) were shown to be modified on binding of the enzyme to the actin-containing filaments of skeletal muscle. Although binding to F-actin or F-actin-tropomyosin filaments results in relative minor changes in kinetic properties, binding to F-actin-tropomyosin-troponin filaments produces major alterations in the kinetic parameters, and, in addition, renders them Ca2+-sensitive. These observations may be relevant to an understanding of the function of this enzyme within the muscle fibre.


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