Study type: In vitro · Status: Verified against declared source

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

2019

Study scale: To quantify mitochondrial fragmentation in fibroblasts, thirty TOMM20-stained cells per cell line and treatment were manually graded based on a set fragmentation scale.

Abstract only: Open source record

Product or molecular entity relationships

  • SS-31: Exact entity relationship. Legacy citation custody associates this source with the catalog record; no product-relevance conclusion is implied.

Plain-language verified summary

Question

The Szeto-Schiller peptide SS-31 (also known as elamipretide or Bendavia) interacts specifically with CL to affect membrane curvature and prevent peroxidative damage (17–19) and has shown pre-clinical promise as a treatment for mitochondrial disorders and heart failure (20–22).

Methods

Total RNA was extracted from DCMA fibroblasts (n = 4) and control fibroblasts (n = 4) using the RNA extraction Mini kit (Invitrogen) according to the manufacturer's protocol.

Scale or participants

To quantify mitochondrial fragmentation in fibroblasts, thirty TOMM20-stained cells per cell line and treatment were manually graded based on a set fragmentation scale.

Key findings

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.

Limitations and uncertainty

The dilated cardiomyopathy with ataxia syndrome (DCMA), also known as 3-methylglutaconic aciduria type V, is a rare and understudied autosomal recessive disorder caused by mutations in the poorly characterized gene DNAJ Heat Shock Protein Family (Hsp40) Member C19 (DNAJC19) (1–4).

Verified against declared source. Verification is limited to the declared source and review scope. It does not mean independent replication or establish efficacy, safety, or suitability.