ArticleHuman molecular genetics2018
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 60 citations in OpenAlex.
- Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization.European journal of human genetics : EJHG · 2026Article
- MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairment.Human molecular genetics · 2026Article
- Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics.JIMD reports · 2026Article
- hnRNPU Safeguards Oocyte Development and Female Fertility via Regulation of Alternative Splicing.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- From Genes to Lives: Integrating the Complexities of Primary Ovarian Insufficiency.International journal of molecular sciences · 2026Review
- Endocrine Dysfunction in Primary Mitochondrial Diseases.Endocrine reviews · 2025Review
- Drosophila modeling to identify causative genes and reveal the underlying molecular mechanisms for primary ovarian insufficiency.Journal of molecular medicine (Berlin, Germany) · 2025Article
- Genetics of ovulatory dysfunction and infertility: a scoping review and gene ontology analysis.Frontiers in endocrinology · 2025Article
- Whole-exome sequencing and Drosophila modelling reveal mutated genes and pathways contributing to human ovarian failure.Reproductive biology and endocrinology : RB&E · 2024Article
- Premature ovarian insufficiency.Nature reviews. Disease primers · 2024Review
- Genetic insights into the complexity of premature ovarian insufficiency.Reproductive biology and endocrinology : RB&E · 2024Review
- Primary ovarian insufficiency: update on clinical and genetic findings.Frontiers in endocrinology · 2024Review
- Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.Frontiers in cell and developmental biology · 2024Review
- Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.Human molecular genetics · 2023Article
- Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.Human genetics · 2023Article
- The mitochondrial ribosomal protein mRpL4 regulates Notch signaling.EMBO reports · 2023Article
- Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.Brain pathology (Zurich, Switzerland) · 2023Article
- LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.European journal of human genetics : EJHG · 2023Article
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- Stem cell-derived extracellular vesicles: A novel and potential remedy for primary ovarian insufficiency.Frontiers in cell and developmental biology · 2023Review
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Authors and funding
16 authors at 5 institutions in 3 countries.
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Abstract
Primary ovarian insufficiency (POI) is characterized by amenorrhea and loss or dysfunction of ovarian follicles prior to the age of 40. POI has been associated with autosomal recessive mutations in genes involving hormonal signaling and folliculogenesis, however, the genetic etiology of POI most often remains unknown. Here we report MRPS22 homozygous missense variants c.404G>A (p.R135Q) and c.605G>A (p.R202H) identified in four females from two independent consanguineous families as a novel genetic cause of POI in adolescents. Both missense mutations identified in MRPS22 are rare, occurred in highly evolutionarily conserved residues, and are predicted to be deleterious to protein function. In contrast to prior reports of mutations in MRPS22 associated with severe mitochondrial disease, the POI phenotype is far less severe. Consistent with this genotype-phenotype correlation, mitochondrial defects in oxidative phosphorylation or rRNA levels were not detected in fibroblasts derived from the POI patients, suggesting a non-bioenergetic or tissue-specific mitochondrial defect. Furthermore, we demonstrate in a Drosophila model that mRpS22 deficiency specifically in somatic cells of the ovary had no effect on fertility, whereas flies with mRpS22 deficiency specifically in germ cells were infertile and agametic, demonstrating a cell autonomous requirement for mRpS22 in germ cell development. These findings collectively identify that MRPS22, a component of the small mitochondrial ribosome subunit, is critical for ovarian development and may therefore provide insight into the pathophysiology and treatment of ovarian dysfunction.
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