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Study · In vitro (cells) · 2019

3 results

SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy.

Machiraju P, Wang X, Sabouny R, Huang J, Zhao T, Iqbal F, King M, Prasher D, Lodha A, Jimenez-Tellez N, Ravandi A, Argiropoulos B and 4 more

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Sinasac D, Khan A, Shutt TE, Greenway SC

Frontiers in cardiovascular medicine15 Nov 2019Cited by 42 (Europe PMC)

PMID31803760 (opens in a new tab)PMCIDPMC6873783 (opens in a new tab)DOI10.3389/fcvm.2019.00167 (opens in a new tab)PepBankPUB-31803760
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Summary

We used patient dermal fibroblasts to characterize the mitochondrial abnormalities associated with the dilated cardiomyopathy with ataxia syndrome (DCMA) and to study the effect of the mitochondrially-targeted peptide SS-31 as a potential novel therapeutic. DCMA is a rare and understudied autosomal recessive disorder thought to be related to Barth syndrome but caused by mutations in DNAJC19, a protein of unknown function localized to the mitochondria. The clinical disease is characterized by 3-methylglutaconic aciduria, dilated cardiomyopathy, abnormal neurological development, and other heterogeneous features. Until recently no effective therapies had been identified and affected patients frequently died in early childhood from intractable heart failure. Skin fibroblasts from four pediatric patients with DCMA were used to establish parameters of mitochondrial dysfunction. Mitochondrial structure, reactive oxygen species (ROS) production, cardiolipin composition, and gene expression were evaluated. Immunocytochemistry with semi-automated quantification of mitochondrial structural metrics and transmission electron microscopy demonstrated mitochondria to be highly fragmented in DCMA fibroblasts compared to healthy control cells. Live-cell imaging demonstrated significantly increased ROS production in patient cells. These abnormalities were reversed by treating DCMA fibroblasts with SS-31, a synthetic peptide that localizes to the inner mitochondrial membrane. Levels of cardiolipin were not significantly different between control and DCMA cells and were unaffected by SS-31 treatment. Our results demonstrate the abnormal mitochondria in fibroblasts from patients with DCMA and suggest that SS-31 may represent a potential therapy for this devastating disease.
CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study3

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

  1. 01LabIn vitro (cells)Mechanism

    In fibroblasts from patients with DCMA, SS‑31 reversed the mitochondrial fragmentation.

    In plain wordsIn lab-grown DCMA skin cells, SS‑31 reversed the broken-up mitochondrial structure.

    Peptide
    Elamipretide (SS-31)
    Outcome
    DecreaseMitochondrial fragmentation
    Study

    humann: not reported in source

    Dermal fibroblasts from patients with DCMA
    Comparator
    Untreated DCMA fibroblasts
    Outcome group
    Mitochondrial function · Cardiovascular
    Studied dose
    Dose not stated

    Source sentences

    Summary
    These abnormalities were reversed by treating DCMA fibroblasts with SS-31, a synthetic peptide that localizes to the inner mitochondrial membrane.
    2 context sentences
    Summary · context
    Immunocytochemistry with semi-automated quantification of mitochondrial structural metrics and transmission electron microscopy demonstrated mitochondria to be highly fragmented in DCMA fibroblasts compared to healthy control cells.
    Summary · context
    Skin fibroblasts from four pediatric patients with DCMA were used to establish parameters of mitochondrial dysfunction.
  2. 02LabIn vitro (cells)Mechanism

    In fibroblasts from patients with DCMA, SS‑31 reversed the increased ROS production.

    In plain wordsIn lab-grown DCMA skin cells, SS‑31 reversed the raised production of reactive oxygen species.

    Peptide
    Elamipretide (SS-31)
    Outcome
    DecreaseReactive oxygen species production
    Study

    humann: not reported in source

    Dermal fibroblasts from patients with DCMA
    Comparator
    Untreated DCMA fibroblasts
    Outcome group
    Mitochondrial function · Cardiovascular
    Studied dose
    Dose not stated

    Source sentences

    Summary
    These abnormalities were reversed by treating DCMA fibroblasts with SS-31, a synthetic peptide that localizes to the inner mitochondrial membrane.
    2 context sentences
    Summary · context
    Live-cell imaging demonstrated significantly increased ROS production in patient cells.
    Summary · context
    Skin fibroblasts from four pediatric patients with DCMA were used to establish parameters of mitochondrial dysfunction.
  3. 03LabIn vitro (cells)Mechanism

    In fibroblasts from patients with DCMA, SS‑31 treatment did not change cardiolipin levels.

    In plain wordsIn lab-grown DCMA skin cells, SS‑31 did not change cardiolipin levels.

    Peptide
    Elamipretide (SS-31)
    Outcome
    No significant changeCardiolipin levels
    Study

    humann: not reported in source

    Dermal fibroblasts from patients with DCMA
    Comparator
    Untreated DCMA fibroblasts
    Outcome group
    Mitochondrial function · Cardiovascular
    Studied dose
    Dose not stated

    Source sentences

    Summary
    Levels of cardiolipin were not significantly different between control and DCMA cells and were unaffected by SS-31 treatment.
    1 context sentence
    Summary · context
    Skin fibroblasts from four pediatric patients with DCMA were used to establish parameters of mitochondrial dysfunction.

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

    10 Oct 2026, 08:19 UTC

    Study results updated

  2. Version 1

    9 Oct 2026, 02:47 UTC

    First added · source update from Europe PMC

Subjects

Terms as the source lists them.

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