Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity Article Swipe
Katja Birker
,
Shuchao Ge
,
Natalie J. Kirkland
,
Jeanne L. Theis
,
James Marchant
,
Zachary C. Fogarty
,
Maria A. Missinato
,
Sreehari Kalvakuri
,
Paul Grossfeld
,
Adam J. Engler
,
Karen Ocorr
,
Timothy J. Nelson
,
Alexandre R. Colas
,
Timothy M. Olson
,
Georg Vogler
,
Rolf Bodmer
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.7554/elife.83385
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.7554/elife.83385
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with a likely oligogenic etiology, but our understanding of the genetic complexities and pathogenic mechanisms leading to HLHS is limited. We performed whole genome sequencing (WGS) on 183 HLHS patient-parent trios to identify candidate genes, which were functionally tested in the Drosophila heart model. Bioinformatic analysis of WGS data from an index family of a HLHS proband born to consanguineous parents prioritized 9 candidate genes with rare, predicted damaging homozygous variants. Of them, cardiac-specific knockdown (KD) of mitochondrial MICOS complex subunit dCHCHD3/6 resulted in drastically compromised heart contractility, diminished levels of sarcomeric actin and myosin, reduced cardiac ATP levels, and mitochondrial fission-fusion defects. These defects were similar to those inflicted by cardiac KD of ATP synthase subunits of the electron transport chain (ETC), consistent with the MICOS complex’s role in maintaining cristae morphology and ETC assembly. Five additional HLHS probands harbored rare, predicted damaging variants in CHCHD3 or CHCHD6 . Hypothesizing an oligogenic basis for HLHS, we tested 60 additional prioritized candidate genes from these patients for genetic interactions with CHCHD3/6 in sensitized fly hearts. Moderate KD of CHCHD3/6 in combination with Cdk12 (activator of RNA polymerase II), RNF149 ( goliath , E3 ubiquitin ligase), or SPTBN1 ( β-Spectrin, scaffolding protein) caused synergistic heart defects, suggesting the likely involvement of diverse pathways in HLHS. Further elucidation of novel candidate genes and genetic interactions of potentially disease-contributing pathways is expected to lead to a better understanding of HLHS and other CHDs.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.7554/elife.83385
- OA Status
- gold
- Cited By
- 12
- References
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- Related Works
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- OpenAlex ID
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- DOI
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https://doi.org/10.7554/elife.83385Digital Object Identifier
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Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrityWork title
- Type
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articleOpenAlex work type
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enPrimary language
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2023Year of publication
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2023-07-05Full publication date if available
- Authors
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Katja Birker, Shuchao Ge, Natalie J. Kirkland, Jeanne L. Theis, James Marchant, Zachary C. Fogarty, Maria A. Missinato, Sreehari Kalvakuri, Paul Grossfeld, Adam J. Engler, Karen Ocorr, Timothy J. Nelson, Alexandre R. Colas, Timothy M. Olson, Georg Vogler, Rolf BodmerList of authors in order
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https://doi.org/10.7554/elife.83385Publisher landing page
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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Biology, Candidate gene, Genetics, GeneTop concepts (fields/topics) attached by OpenAlex
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12Total citation count in OpenAlex
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2025: 6, 2024: 4, 2023: 2Per-year citation counts (last 5 years)
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.for | 166, 178 |
| abstract_inverted_index.our | 18 |
| abstract_inverted_index.the | 21, 52, 130, 137, 218 |
| abstract_inverted_index.(KD) | 87 |
| abstract_inverted_index.Five | 148 |
| abstract_inverted_index.HLHS | 29, 40, 67, 150, 248 |
| abstract_inverted_index.II), | 199 |
| abstract_inverted_index.born | 69 |
| abstract_inverted_index.data | 60 |
| abstract_inverted_index.from | 61, 175 |
| abstract_inverted_index.lead | 242 |
| abstract_inverted_index.left | 1 |
| abstract_inverted_index.role | 140 |
| abstract_inverted_index.were | 48, 117 |
| abstract_inverted_index.with | 12, 77, 136, 181, 193 |
| abstract_inverted_index.(CHD) | 11 |
| abstract_inverted_index.(WGS) | 37 |
| abstract_inverted_index.CHDs. | 251 |
| abstract_inverted_index.Cdk12 | 194 |
| abstract_inverted_index.HLHS, | 167 |
| abstract_inverted_index.HLHS. | 225 |
| abstract_inverted_index.MICOS | 90, 138 |
| abstract_inverted_index.These | 115 |
| abstract_inverted_index.actin | 104 |
| abstract_inverted_index.basis | 165 |
| abstract_inverted_index.chain | 133 |
| abstract_inverted_index.genes | 76, 174, 231 |
| abstract_inverted_index.heart | 2, 9, 54, 98, 215 |
| abstract_inverted_index.index | 63 |
| abstract_inverted_index.novel | 229 |
| abstract_inverted_index.other | 250 |
| abstract_inverted_index.rare, | 78, 153 |
| abstract_inverted_index.them, | 84 |
| abstract_inverted_index.these | 176 |
| abstract_inverted_index.those | 120 |
| abstract_inverted_index.trios | 42 |
| abstract_inverted_index.which | 47 |
| abstract_inverted_index.whole | 34 |
| abstract_inverted_index.(ETC), | 134 |
| abstract_inverted_index.(HLHS) | 4 |
| abstract_inverted_index.CHCHD3 | 158 |
| abstract_inverted_index.CHCHD6 | 160 |
| abstract_inverted_index.RNF149 | 200 |
| abstract_inverted_index.SPTBN1 | 208 |
| abstract_inverted_index.better | 245 |
| abstract_inverted_index.caused | 213 |
| abstract_inverted_index.family | 64 |
| abstract_inverted_index.genes, | 46 |
| abstract_inverted_index.genome | 35 |
| abstract_inverted_index.levels | 101 |
| abstract_inverted_index.likely | 14, 219 |
| abstract_inverted_index.model. | 55 |
| abstract_inverted_index.severe | 7 |
| abstract_inverted_index.tested | 50, 169 |
| abstract_inverted_index.Further | 226 |
| abstract_inverted_index.cardiac | 108, 123 |
| abstract_inverted_index.complex | 91 |
| abstract_inverted_index.cristae | 143 |
| abstract_inverted_index.defects | 116 |
| abstract_inverted_index.disease | 10 |
| abstract_inverted_index.diverse | 222 |
| abstract_inverted_index.genetic | 22, 179, 233 |
| abstract_inverted_index.goliath | 202 |
| abstract_inverted_index.hearts. | 186 |
| abstract_inverted_index.leading | 27 |
| abstract_inverted_index.levels, | 110 |
| abstract_inverted_index.myosin, | 106 |
| abstract_inverted_index.parents | 72 |
| abstract_inverted_index.proband | 68 |
| abstract_inverted_index.reduced | 107 |
| abstract_inverted_index.similar | 118 |
| abstract_inverted_index.subunit | 92 |
| abstract_inverted_index.CHCHD3/6 | 182, 190 |
| abstract_inverted_index.Moderate | 187 |
| abstract_inverted_index.analysis | 57 |
| abstract_inverted_index.damaging | 80, 155 |
| abstract_inverted_index.defects, | 216 |
| abstract_inverted_index.defects. | 114 |
| abstract_inverted_index.electron | 131 |
| abstract_inverted_index.expected | 240 |
| abstract_inverted_index.harbored | 152 |
| abstract_inverted_index.identify | 44 |
| abstract_inverted_index.ligase), | 206 |
| abstract_inverted_index.limited. | 31 |
| abstract_inverted_index.pathways | 223, 238 |
| abstract_inverted_index.patients | 177 |
| abstract_inverted_index.probands | 151 |
| abstract_inverted_index.protein) | 212 |
| abstract_inverted_index.resulted | 94 |
| abstract_inverted_index.subunits | 128 |
| abstract_inverted_index.syndrome | 3 |
| abstract_inverted_index.synthase | 127 |
| abstract_inverted_index.variants | 156 |
| abstract_inverted_index.assembly. | 147 |
| abstract_inverted_index.candidate | 45, 75, 173, 230 |
| abstract_inverted_index.dCHCHD3/6 | 93 |
| abstract_inverted_index.etiology, | 16 |
| abstract_inverted_index.inflicted | 121 |
| abstract_inverted_index.knockdown | 86 |
| abstract_inverted_index.performed | 33 |
| abstract_inverted_index.predicted | 79, 154 |
| abstract_inverted_index.transport | 132 |
| abstract_inverted_index.ubiquitin | 205 |
| abstract_inverted_index.variants. | 82 |
| abstract_inverted_index.(activator | 195 |
| abstract_inverted_index.Drosophila | 53 |
| abstract_inverted_index.additional | 149, 171 |
| abstract_inverted_index.congenital | 8 |
| abstract_inverted_index.consistent | 135 |
| abstract_inverted_index.diminished | 100 |
| abstract_inverted_index.homozygous | 81 |
| abstract_inverted_index.mechanisms | 26 |
| abstract_inverted_index.morphology | 144 |
| abstract_inverted_index.oligogenic | 15, 164 |
| abstract_inverted_index.pathogenic | 25 |
| abstract_inverted_index.polymerase | 198 |
| abstract_inverted_index.sarcomeric | 103 |
| abstract_inverted_index.sensitized | 184 |
| abstract_inverted_index.sequencing | 36 |
| abstract_inverted_index.suggesting | 217 |
| abstract_inverted_index.Hypoplastic | 0 |
| abstract_inverted_index.combination | 192 |
| abstract_inverted_index.complex’s | 139 |
| abstract_inverted_index.compromised | 97 |
| abstract_inverted_index.drastically | 96 |
| abstract_inverted_index.elucidation | 227 |
| abstract_inverted_index.involvement | 220 |
| abstract_inverted_index.maintaining | 142 |
| abstract_inverted_index.potentially | 236 |
| abstract_inverted_index.prioritized | 73, 172 |
| abstract_inverted_index.scaffolding | 211 |
| abstract_inverted_index.synergistic | 214 |
| abstract_inverted_index.complexities | 23 |
| abstract_inverted_index.functionally | 49 |
| abstract_inverted_index.interactions | 180, 234 |
| abstract_inverted_index.β-Spectrin, | 210 |
| abstract_inverted_index.Bioinformatic | 56 |
| abstract_inverted_index.Hypothesizing | 162 |
| abstract_inverted_index.mitochondrial | 89, 112 |
| abstract_inverted_index.understanding | 19, 246 |
| abstract_inverted_index.consanguineous | 71 |
| abstract_inverted_index.contractility, | 99 |
| abstract_inverted_index.fission-fusion | 113 |
| abstract_inverted_index.patient-parent | 41 |
| abstract_inverted_index.cardiac-specific | 85 |
| abstract_inverted_index.disease-contributing | 237 |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 94 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 16 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.75 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.87981077 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |