ArticleSaudi journal of biological sciences2020
Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects.
Article in Saudi journal of biological sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
- Ceramides in non-communicable diseases: pathways, nutritional modulation, and therapeutic opportunities.Journal of physiology and biochemistry · 2025Review
- Untargeted plasma metabolite detection in sudden sensorineural hearing loss: identifying key metabolic signatures.Frontiers in molecular biosciences · 2025Article
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- Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.Frontiers in physiology · 2023Article
- Metabolomic Studies in Inner Ear Pathologies.Metabolites · 2022Review
- Diagnostic and predictive values of serum metabolic profiles in sudden sensorineural hearing loss patients.Frontiers in molecular biosciences · 2022Article
- Granulomatous hepatitis in a Saudi child withTherapeutic advances in chronic disease · 2022Article
- Untargeted Metabolic Profiling of Extracellular Vesicles of SARS-CoV-2-Infected Patients Shows Presence of Potent Anti-Inflammatory Metabolites.International journal of molecular sciences · 2021Article
- Compound C, a Broad Kinase Inhibitor Alters Metabolic Fingerprinting of Extra Cellular Matrix Detached Cancer Cells.Frontiers in oncology · 2021Article
- The Impact of Dietary Sphingolipids on Intestinal Microbiota and Gastrointestinal Immune Homeostasis.Frontiers in immunology · 2021Review
- NovelFrontiers in medicine · 2021Article
- Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.Frontiers in pediatrics · 2021Article
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Authors and funding
16 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial disorders (MIDs) shows overlapping clinical presentations owing to the genetic and metabolic defects of mitochondria. However, specific relationship between inherited mutations in nuclear encoded mitochondrial proteins and their functional impacts in terms of metabolic defects in patients is not yet well explored. Therefore, using high throughput whole exome sequencing (WES), we screened a chronic kidney disease (CKD) and sensorineural hearing loss (SNHL) patient, and her family members to ascertain the mode of inheritance of the mutation, and healthy population controls to establish its rare frequency. The impact of mutation on biophysical characteristics of the protein was further studied by mapping it in 3D structure. Furthermore, LC-MS tandem mass spectrophotometry based untargeted metabolomic profiling was done to study the fluctuations in plasma metabolites relevant to disease causative mutations and kidney damage. We identified a very rare homozygous c.631G > A (p.Val211Met) pathogenic mutation in
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