Document Detail

Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood.
MedLine Citation:
PMID:  23135609     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: We 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.
CONCLUSIONS: The 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.
Kristin E D'Aco; Megan Manno; Colleen Clarke; Jaya Ganesh; Kevin E C Meyers; Neal Sondheimer
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural     Date:  2012-11-08
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  28     ISSN:  1432-198X     ISO Abbreviation:  Pediatr. Nephrol.     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-01-28     Completed Date:  2013-07-26     Revised Date:  2014-03-07    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  515-9     Citation Subset:  IM    
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MeSH Terms
Cells, Cultured
DNA Mutational Analysis
Fatal Outcome
Genetic Predisposition to Disease
Kidney / metabolism*,  pathology,  physiopathology
Kidney Failure, Chronic / diagnosis,  genetics*,  metabolism,  physiopathology,  therapy
Mitochondrial Diseases / complications,  diagnosis,  genetics*,  metabolism,  therapy
Mitochondrial Proteins / biosynthesis,  genetics
Oxygen Consumption / genetics
Peritoneal Dialysis
RNA / genetics*,  metabolism
RNA Stability
RNA, Transfer, Phe / genetics*,  metabolism
Time Factors
Grant Support
Reg. No./Substance:
0/Mitochondrial Proteins; 0/RNA, Transfer, Phe; 0/RNA, mitochondrial; 63231-63-0/RNA
Comment In:
Pediatr Nephrol. 2013 Mar;28(3):357-61   [PMID:  23233040 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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