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Study · Animal study (in vivo) · mouse · 2024

2 results

SS-31 treatment ameliorates cardiac mitochondrial morphology and defective mitophagy in a murine model of Barth syndrome.

Russo S, De Rasmo D, Rossi R, Signorile A, Lobasso S

Scientific reports13 Jun 2024Cited by 24 (Europe PMC)

PMID38871974 (opens in a new tab)DOI10.1038/s41598-024-64368-y (opens in a new tab)PepBankPUB-38871974
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Summary

Barth syndrome (BTHS) is a lethal rare genetic disorder, which results in cardiac dysfunction, severe skeletal muscle weakness, immune issues and growth delay. Mutations in the TAFAZZIN gene, which is responsible for the remodeling of the phospholipid cardiolipin (CL), lead to abnormalities in mitochondrial membrane, including alteration of mature CL acyl composition and the presence of monolysocardiolipin (MLCL). The dramatic increase in the MLCL/CL ratio is the hallmark of patients with BTHS, which is associated with mitochondrial bioenergetics dysfunction and altered membrane ultrastructure. There are currently no specific therapies for BTHS. Here, we showed that cardiac mitochondria isolated from TAFAZZIN knockdown (TazKD) mice presented abnormal ultrastructural membrane morphology, accumulation of vacuoles, pro-fission conditions and defective mitophagy. Interestingly, we found that in vivo treatment of TazKD mice with a CL-targeted small peptide (named SS-31) was able to restore mitochondrial morphology in tafazzin-deficient heart by affecting specific proteins involved in dynamic process and mitophagy. This agrees with our previous data showing an improvement in mitochondrial respiratory efficiency associated with increased supercomplex organization in TazKD mice under the same pharmacological treatment. Taken together our findings confirm the beneficial effect of SS-31 in the amelioration of tafazzin-deficient dysfunctional mitochondria in a BTHS animal model.
CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study2

2 results from studies that gave the peptide. No result from this study comes from people.

  1. 01AnimalAnimal study (in vivo)Mechanism

    In TAFAZZIN-knockdown mice, in vivo SS‑31 treatment restored mitochondrial morphology in the tafazzin-deficient heart.

    In plain wordsIn mice with Barth syndrome, SS‑31 restored the shape of heart mitochondria.

    Peptide
    Elamipretide (SS-31)
    Outcome
    Direction not reportedCardiac mitochondrial morphology
    Study

    mousen: not reported in source

    TAFAZZIN knockdown (Taz KD) mouse model of Barth syndrome
    Outcome group
    Mitochondrial function · Cardiovascular
    Studied dose
    Dose not stated

    Source sentences

    Summary
    Interestingly, we found that in vivo treatment of TazKD mice with a CL-targeted small peptide (named SS-31) was able to restore mitochondrial morphology in tafazzin-deficient heart by affecting specific proteins involved in dynamic process and mitophagy.
  2. 02AnimalAnimal study (in vivo)Mechanism

    In TAFAZZIN-knockdown mice, SS‑31 affected specific proteins involved in mitochondrial dynamics and mitophagy in the heart.

    In plain wordsIn mice with Barth syndrome, SS‑31 changed heart proteins that control mitochondrial shape changes and clean-up.

    Peptide
    Elamipretide (SS-31)
    Outcome
    Direction not reportedMitochondrial dynamics and mitophagy proteins
    Study

    mousen: not reported in source

    TAFAZZIN knockdown (Taz KD) mouse model of Barth syndrome
    Outcome group
    Mitochondrial function · Cardiovascular
    Studied dose
    Dose not stated

    Source sentences

    Summary
    Interestingly, we found that in vivo treatment of TazKD mice with a CL-targeted small peptide (named SS-31) was able to restore mitochondrial morphology in tafazzin-deficient heart by affecting specific proteins involved in dynamic process and mitophagy.

AI wrote and checked these results. AI can make mistakes, so check important results against the source.

Version history

PepBank keeps every version of the data on this study. Status changes from Retraction Watch, Europe PMC and Crossref are listed with their source.

  1. Version 2Current

    9 Oct 2026, 18:17 UTC

    Study results updated

  2. Version 1

    9 Oct 2026, 02:47 UTC

    First added · source update from Europe PMC

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