Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2 Article Swipe
Sophie Broadway‐Stringer
,
He Jiang
,
Kirsty Wadmore
,
Charlotte Hooper
,
Gillian Douglas
,
Violetta Steeples
,
Amar J. Azad
,
Evie Singer
,
Jasmeet S. Reyat
,
František Galatik
,
Elisabeth Ehler
,
Pauline M. Bennett
,
Jacinta I. Kalisch‐Smith
,
Duncan B. Sparrow
,
Benjamin Davies
,
Kristina Djinović‐Carugo
,
Mathias Gautel
,
Hugh Watkins
,
Katja Gehmlich
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/cells12050721
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/cells12050721
Pathogenic variants in ACTN2, coding for alpha-actinin 2, are known to be rare causes of Hypertrophic Cardiomyopathy. However, little is known about the underlying disease mechanisms. Adult heterozygous mice carrying the Actn2 p.Met228Thr variant were phenotyped by echocardiography. For homozygous mice, viable E15.5 embryonic hearts were analysed by High Resolution Episcopic Microscopy and wholemount staining, complemented by unbiased proteomics, qPCR and Western blotting. Heterozygous Actn2 p.Met228Thr mice have no overt phenotype. Only mature males show molecular parameters indicative of cardiomyopathy. By contrast, the variant is embryonically lethal in the homozygous setting and E15.5 hearts show multiple morphological abnormalities. Molecular analyses, including unbiased proteomics, identified quantitative abnormalities in sarcomeric parameters, cell-cycle defects and mitochondrial dysfunction. The mutant alpha-actinin protein is found to be destabilised, associated with increased activity of the ubiquitin-proteasomal system. This missense variant in alpha-actinin renders the protein less stable. In response, the ubiquitin-proteasomal system is activated; a mechanism that has been implicated in cardiomyopathies previously. In parallel, a lack of functional alpha-actinin is thought to cause energetic defects through mitochondrial dysfunction. This seems, together with cell-cycle defects, the likely cause of the death of the embryos. The defects also have wide-ranging morphological consequences.
Related Topics
Concepts
Biology
Ubiquitin
Phenotype
Cardiomyopathy
Cell biology
Proteomics
Actinin
Proteasome
Missense mutation
Molecular biology
Genetics
Heart failure
Cell
Gene
Internal medicine
Medicine
Cytoskeleton
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/cells12050721
- https://www.mdpi.com/2073-4409/12/5/721/pdf?version=1677223968
- OA Status
- gold
- Cited By
- 17
- References
- 53
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4321787187
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4321787187Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3390/cells12050721Digital Object Identifier
- Title
-
Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2Work title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-02-24Full publication date if available
- Authors
-
Sophie Broadway‐Stringer, He Jiang, Kirsty Wadmore, Charlotte Hooper, Gillian Douglas, Violetta Steeples, Amar J. Azad, Evie Singer, Jasmeet S. Reyat, František Galatik, Elisabeth Ehler, Pauline M. Bennett, Jacinta I. Kalisch‐Smith, Duncan B. Sparrow, Benjamin Davies, Kristina Djinović‐Carugo, Mathias Gautel, Hugh Watkins, Katja GehmlichList of authors in order
- Landing page
-
https://doi.org/10.3390/cells12050721Publisher landing page
- PDF URL
-
https://www.mdpi.com/2073-4409/12/5/721/pdf?version=1677223968Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://www.mdpi.com/2073-4409/12/5/721/pdf?version=1677223968Direct OA link when available
- Concepts
-
Biology, Ubiquitin, Phenotype, Cardiomyopathy, Cell biology, Proteomics, Actinin, Proteasome, Missense mutation, Molecular biology, Genetics, Heart failure, Cell, Gene, Internal medicine, Medicine, CytoskeletonTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
17Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 7, 2024: 4, 2023: 6Per-year citation counts (last 5 years)
- References (count)
-
53Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.causes | 13 |
| abstract_inverted_index.coding | 4 |
| abstract_inverted_index.hearts | 44, 93 |
| abstract_inverted_index.lethal | 86 |
| abstract_inverted_index.likely | 180 |
| abstract_inverted_index.little | 18 |
| abstract_inverted_index.mature | 72 |
| abstract_inverted_index.mutant | 115 |
| abstract_inverted_index.seems, | 174 |
| abstract_inverted_index.system | 145 |
| abstract_inverted_index.viable | 41 |
| abstract_inverted_index.Western | 61 |
| abstract_inverted_index.defects | 110, 169, 189 |
| abstract_inverted_index.disease | 24 |
| abstract_inverted_index.protein | 117, 138 |
| abstract_inverted_index.renders | 136 |
| abstract_inverted_index.setting | 90 |
| abstract_inverted_index.stable. | 140 |
| abstract_inverted_index.system. | 130 |
| abstract_inverted_index.thought | 165 |
| abstract_inverted_index.through | 170 |
| abstract_inverted_index.variant | 33, 83, 133 |
| abstract_inverted_index.However, | 17 |
| abstract_inverted_index.activity | 126 |
| abstract_inverted_index.analysed | 46 |
| abstract_inverted_index.carrying | 29 |
| abstract_inverted_index.defects, | 178 |
| abstract_inverted_index.embryos. | 187 |
| abstract_inverted_index.missense | 132 |
| abstract_inverted_index.multiple | 95 |
| abstract_inverted_index.together | 175 |
| abstract_inverted_index.unbiased | 57, 101 |
| abstract_inverted_index.variants | 1 |
| abstract_inverted_index.Episcopic | 50 |
| abstract_inverted_index.Molecular | 98 |
| abstract_inverted_index.analyses, | 99 |
| abstract_inverted_index.blotting. | 62 |
| abstract_inverted_index.contrast, | 81 |
| abstract_inverted_index.embryonic | 43 |
| abstract_inverted_index.energetic | 168 |
| abstract_inverted_index.including | 100 |
| abstract_inverted_index.increased | 125 |
| abstract_inverted_index.mechanism | 149 |
| abstract_inverted_index.molecular | 75 |
| abstract_inverted_index.parallel, | 158 |
| abstract_inverted_index.response, | 142 |
| abstract_inverted_index.staining, | 54 |
| abstract_inverted_index.Microscopy | 51 |
| abstract_inverted_index.Pathogenic | 0 |
| abstract_inverted_index.Resolution | 49 |
| abstract_inverted_index.activated; | 147 |
| abstract_inverted_index.associated | 123 |
| abstract_inverted_index.cell-cycle | 109, 177 |
| abstract_inverted_index.functional | 162 |
| abstract_inverted_index.homozygous | 39, 89 |
| abstract_inverted_index.identified | 103 |
| abstract_inverted_index.implicated | 153 |
| abstract_inverted_index.indicative | 77 |
| abstract_inverted_index.parameters | 76 |
| abstract_inverted_index.phenotype. | 70 |
| abstract_inverted_index.phenotyped | 35 |
| abstract_inverted_index.sarcomeric | 107 |
| abstract_inverted_index.underlying | 23 |
| abstract_inverted_index.wholemount | 53 |
| abstract_inverted_index.mechanisms. | 25 |
| abstract_inverted_index.p.Met228Thr | 32, 65 |
| abstract_inverted_index.parameters, | 108 |
| abstract_inverted_index.previously. | 156 |
| abstract_inverted_index.proteomics, | 58, 102 |
| abstract_inverted_index.Heterozygous | 63 |
| abstract_inverted_index.Hypertrophic | 15 |
| abstract_inverted_index.complemented | 55 |
| abstract_inverted_index.dysfunction. | 113, 172 |
| abstract_inverted_index.heterozygous | 27 |
| abstract_inverted_index.quantitative | 104 |
| abstract_inverted_index.wide-ranging | 192 |
| abstract_inverted_index.abnormalities | 105 |
| abstract_inverted_index.alpha-actinin | 6, 116, 135, 163 |
| abstract_inverted_index.consequences. | 194 |
| abstract_inverted_index.destabilised, | 122 |
| abstract_inverted_index.embryonically | 85 |
| abstract_inverted_index.mitochondrial | 112, 171 |
| abstract_inverted_index.morphological | 96, 193 |
| abstract_inverted_index.abnormalities. | 97 |
| abstract_inverted_index.Cardiomyopathy. | 16 |
| abstract_inverted_index.cardiomyopathy. | 79 |
| abstract_inverted_index.cardiomyopathies | 155 |
| abstract_inverted_index.echocardiography. | 37 |
| abstract_inverted_index.ubiquitin-proteasomal | 129, 144 |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 97 |
| corresponding_author_ids | https://openalex.org/A5007011337 |
| countries_distinct_count | 4 |
| institutions_distinct_count | 19 |
| corresponding_institution_ids | https://openalex.org/I32003884, https://openalex.org/I40120149, https://openalex.org/I79619799 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.6700000166893005 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.953395 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |