Omics · study · 2026
Ca²⁺-induced lysosomal dysfunction promotes SR-derived vesicle accumulation and microtubule aster formation in PLN R14del cardiomyopathy
Listed in NCBI GEO
The structural and functional integrity of long-lived cells, like cardiomyocytes, depends heavily on robust degradation mechanisms, and disruption of these mechanisms can drive protein accumulation and cellular degeneration.
Description
Genetic variants in phospholamban (PLN), the main inhibitor of the sarco/endoplasmic reticulum Ca²⁺-ATPase 2a (SERCA2a), cause inherited cardiomyopathy characterized by the abnormal perinuclear accumulation of PLN protein resulting in a progressive loss of cardiomyocytes.
However, the nature of these PLN structures, the mechanisms driving their formation, and their role in disease progression remain largely unresolved. Using a plna R14del zebrafish model, left ventricular tissue from end-stage PLN R14del cardiomyopathy patients, and pharmacological inhibition of SERCA2a in wild type (WT) cardiac slices, we demonstrate that abnormal perinuclear accumulation of PLN represents clusters of sarcoplasmic reticulum (SR)-derived PLN-containing vesicle-like structures that form due to impaired SERCA2a activity and increased cytosolic Ca²⁺ levels.
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Furthermore, we show that these SR-derived vesicle-like structures often localize adjacent to lysosomes. Interestingly, Ca²⁺dysregulation in plna R14del hearts leads to reduced lysosomal function, resulting in the accumulation of SR-derived vesicle-like structures at the microtubule organizing center (MTOC). Strikingly, the accumulation of vesicle-like structures at the MTOC is accompanied by reorganization of the linear microtubule network into asters, ion-channel mislocalization, sarcomere disorganization, and nuclear deformation.
Restoration of lysosomal function through Ca²⁺ buffering or fasting reduces vesicle accumulation, restores microtubule organization, and rescues cellular architecture. Collectively, our study defines a Ca²⁺-sensitive pathway linking the formation of SR-derived vesicle-like structures, lysosomal dysfunction, and microtubule remodeling to pathological cellular rearrangements.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE339nnn/GSE339491 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE339491 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1499059 ncbi.nlm.nih.gov/bioproject/PRJNA1499059 ↗
project · from NCBI GEO
Topics
- Stated by source
- Danio rerio · Expression profiling by high throughput sequencing
- From keywords
- Life Sciences
- Inferred from text
- Cardiomyopathy 75% · Disease 75% · Heart 65%
Provenance · 1 source records, 10 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE339491 | 14 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[anatomy].local:anatomy:heart | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (65%) |
| concepts[disease].local:disease:cardiomyopathy | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[disease].local:disease:disease | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:expression-profiling-by-high-throughput-sequencing | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[organism].NCBITaxon:7955 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |