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Advanced Stages of Duchenne Muscular Dystrophy Exhibit Mitochondrial Bioenergetic Impairments Linked Specifically to Creatine‐Dependent Energy Exchange

2019· article· en· W3175791887 on OpenAlexaffabout
Meghan C. Hughes, Sofhia V. Ramos, Patrick C. Turnbull, Christopher G. R. Perry

Bibliographic record

VenueThe FASEB Journal · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMitochondrial Function and Pathology
Canadian institutionsYork University
Fundersnot available
KeywordsDuchenne muscular dystrophyPhosphocreatineCreatineInternal medicineEndocrinologyChemistryCreatine kinaseVentricleOxidative phosphorylationMitochondrionBioenergeticsDiaphragm (acoustics)MedicineBiochemistryEnergy metabolism

Abstract

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Rationale Our recent findings demonstrate that left ventricle and diaphragm from 4 week old D2. mdx mice with Duchenne Muscular Dystrophy (DMD) exhibit impaired mitochondrial oxidative phosphorylation and elevated H 2 O 2 (mH 2 O 2 ) emission. The present investigation sought to determine the degree of these deficits in advanced stages of DMD. Methods ADP‐dependent mH 2 O 2 emission and respiration were assessed in permeabilized muscle fibre bundles from heart and diaphragm muscle of D2. mdx mice (52 weeks). Mitochondrial assessments were performed in the presence of 20mM creatine (+Cr) to maximally activate mitochondrial creatine kinase (mtCK)‐dependent shuttling of phosphate to the cytoplasm as phosphocreatine, which accelerates matrix ADP/ATP cycling, as well as in the absence of creatine (−Cr) to force mitochondria to rely solely on slower ATP/ADP diffusion. Results State II mH 2 O 2 emission (0 mM ADP, maximal mH 2 O 2 emission) was unchanged in DMD heart and lower in DMD diaphragm in both +Cr (96.0 pmol/sec/mg dry wt in DMD vs 498.0 pmol/sec/mg dry wt in WT, p<0.05) and –Cr (50.2 vs 312.9, p<0.05). 25 mM ADP was added to evaluate the ability of ADP to lower mH 2 O 2 emission (state III). ADP's ability to lower mH 2 O 2 emission was impaired in +Cr (heart: 69% of state II mH 2 O 2 in DMD vs 61% in WT, p=0.06; diaphragm: 75% vs 54%, p<0.05) but improved in −Cr in the heart (69% vs 98%, p<0.05), and unchanged in diaphragm. State III respiration was also evaluated using 25 mM ADP. +Cr, respiration was impaired in the heart (48.0 pmol/sec/mg wet wt in DMD vs 75.6 pmol/sec/mg wet wt in WT, p<0.05) and diaphragm (43.4 vs 47.8, p<0.05). −Cr, respiration was improved in DMD heart (60.0 vs 29.8 pmol/sec/mg wet wt, p<0.05) and unchanged in diaphragm. The greater mH 2 O 2 due to impaired mtCK did not alter heart glutathione in reduced or oxidized forms, total glutathione or GSH/GSSG, but did increase diaphragm glutathione in oxidized, reduced and total forms (117–204%, p<0.001). Conclusion These findings demonstrate that mitochondrial dysfunctions during advanced stages in DMD are attributed specifically to an impaired ability of creatine to enhance ADP's control of respiration and mH 2 O 2 emission. A partial compensation in creatine‐independent control of ADP was observed which may prevent even further detriments to cellular energy and redox homeostasis. These findings suggest that restoration of normal mtCK activity and mitochondrial creatine‐dependent phosphate shuttling may be an effective approach at restoring mitochondrial bioenergetics and countering muscle‐specific weakness in DMD. Support or Funding Information NSERC Discovery Grant, The James H. Cummings Foundation, Canadian Foundation for Innovation, Ontario Research Fund This abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal .

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How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.010

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0030.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.009
GPT teacher head0.228
Teacher spread0.220 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations1
Published2019
Admission routes2
Has abstractyes

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