ArticlePediatric nephrology (Berlin, Germany)2013
Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood.
Article in Pediatric nephrology (Berlin, Germany), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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20 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Kidney transplantation in mitochondrial diseases: a systematic review.Pediatric nephrology (Berlin, Germany) · 2026Pooled it
- Tissue-specific mitochondrial DNA,Molecular genetics and metabolism reports · 2025Article
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- Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21.Balkan journal of medical genetics : BJMG · 2023Article
- Mitochondrial DNA mutations in renal disease: an overview.Pediatric nephrology (Berlin, Germany) · 2021Review
- Mitochondrial Regulation of Diabetic Kidney Disease.Frontiers in medicine · 2021Review
- Mitochondrial Disease and the Kidney With a Special Focus on CoQKidney international reports · 2020Review
- G-quadruplex dynamics contribute to regulation of mitochondrial gene expression.Scientific reports · 2019Article
- A Single-Center Retrospective Study of Acute Kidney Injury Incidence in Patients With Advanced Malignancies Treated With Antimitochondrial Targeted Drug.Kidney international reports · 2019Article
- Hepatocyte Nuclear Factor-1Journal of the American Society of Nephrology : JASN · 2017Article
- Review
- Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases.EBioMedicine · 2017Article
- Renal manifestations of primary mitochondrial disorders.Biomedical reports · 2017Article
- Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.PLoS genetics · 2017Article
- Focal segmental glomerulosclerosis associated with mitochondrial disease.Clinical nephrology. Case studies · 2017Article
- Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders.Neuropsychiatric disease and treatment · 2017Article
- Altered Mitochondrial Function, Mitochondrial DNA and Reduced Metabolic Flexibility in Patients With Diabetic Nephropathy.EBioMedicine · 2015Article
- Renal manifestations of genetic mitochondrial disease.International journal of nephrology and renovascular disease · 2014Review
- A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.BMC nephrology · 2013Article
- Mitochondrial disease--an important cause of end-stage renal failure.Pediatric nephrology (Berlin, Germany) · 2013Article
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6 authors at 3 institutions in 1 country.
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Abstract
backgroundWe identified a mitochondrial tRNA mutation (m.586 G > A) in a patient with renal failure and symptoms consistent with a mitochondrial cytopathy. This mutation was of unclear significance due to the absence of consistent reports of linkage to specific disease phenotypes and any data pertaining to its effects on mitochondrial function. CASE-DIAGNOSIS/TREATMENT: A 16-month-old girl with failure-to-thrive, developmental regression, persistent lactic acidosis, hypotonia, gastrointestinal dysmotility, adrenal insufficiency, and hematologic abnormalities developed hypertension and renal impairment with chronic tubulointerstitial fibrosis, progressing to renal failure with the need for peritoneal dialysis. Evaluation of her muscle and blood led to the identification of a mutation of the mitochondrial tRNA for phenylalanine, m.586 G > A.
conclusionsThe m.586 G > A mutation is pathogenic and a cause of end-stage renal disease in childhood. The mutation interferes with the stability of tRNA(Phe) and affects the translation of mitochondrial proteins and the stability of the electron transport chain.
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