| Tubulointerstitial nephritis associated with a novel mitochondrial point mutation. | |
| | |
MedLine Citation:
|
PMID: 11231339 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
BACKGROUND: Nephropathy caused by mitochondrial disorders is a relatively newly recognized disease. Only a few cases have been reported in the literature, and most of them are proximal tubulopathy-presenting Fanconi syndrome. Here we report on a novel mutation in two familial cases of tubulointerstitial nephropathy associated with concentrating defect. METHODS: Renal biopsy specimens were examined by light microscopy and electron microscopy. Mitochondrial genomic DNA isolated from renal biopsy specimens was amplified by polymerase chain reaction (PCR) and sequenced in its entirety. The DNA sequences were analyzed by (1) comparing with the Anderson et al's mitochondrial sequences; (2) comparing with DNA sequences obtained from 97 human controls, including both healthy individuals and patients with renal diseases; and (3) comparing with the counterparts in 90 different species. RESULTS: Dismorphic mitochondria with occasional intramitochondrial inclusions were found in the renal tubular epithelial cells. A novel mitochondrial point mutation was identified at the position 608, that is, the distal end of the anticodon stem of the tRNA(Phe) molecule. The A to G substitution at this position was not observed in 97 human controls and was found to be highly conserved in evolution. CONCLUSIONS: We have identified an A608G mutation of mitochondrial genome in two cases whose presentation include tubulointerstitial nephritis and stroke. |
| | |
Authors:
|
C Y Tzen; J D Tsai; T Y Wu; B F Chen; M L Chen; S P Lin; S C Chen |
Related Documents
:
|
10503539 - Chloroplast suppressors that act on a mitochondrial mutation in chlamydomonas reinhardtii. 2842069 - Functional nuclear suppressor of mitochondrial oxi2 mutations in yeast. 9309699 - Mitochondrial dna mutations in multiple symmetric lipomatosis. 17162199 - Early-onset ophthalmoplegia in leigh-like syndrome due to ndufv1 mutations. 20186009 - A novel heteroplasmic trna ser(ucn) mtdna point mutation associated with progressive op... 1910259 - A trna(lys) mutation in the mtdna is the causal genetic lesion underlying myoclonic epi... 22058429 - Linkage and association analyses of glaucoma related traits in a large pedigree from a ... 18364739 - Association analysis of the skin barrier gene cystatin a at the psors5 locus in psoriat... 14980479 - In vivo recombineering of bacteriophage lambda by pcr fragments and single-strand oligo... |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Kidney international Volume: 59 ISSN: 0085-2538 ISO Abbreviation: Kidney Int. Publication Date: 2001 Mar |
Date Detail:
|
Created Date: 2001-03-20 Completed Date: 2001-07-19 Revised Date: 2006-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 0323470 Medline TA: Kidney Int Country: United States |
Other Details:
|
Languages: eng Pagination: 846-54 Citation Subset: IM |
Affiliation:
|
Department of Pathology, Mackay Memorial Hospital, Taipei, Taiwan. jeffrey@ms2.mmh.org.tw |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Animals Base Sequence / genetics Child, Preschool Conserved Sequence / genetics DNA, Mitochondrial / metabolism Evolution Humans Kidney / metabolism, pathology Male Microscopy, Electron Mitochondria / genetics* Molecular Sequence Data Nephritis, Interstitial / genetics*, pathology Point Mutation* RNA, Transfer, Phe / genetics Reference Values |
| Chemical | |
Reg. No./Substance:
|
0/DNA, Mitochondrial; 0/RNA, Transfer, Phe |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Molecular aspects of renal tubular handling and regulation of inorganic sulfate.
Next Document: p21(WAF1) and transforming growth factor-alpha mediate dietary phosphate regulation of parathyroid c...