Document Detail

Leber's hereditary optic neuropathy (LHON)-related mitochondrial DNA sequence changes in italian patients presenting with sporadic bilateral optic neuritis.
MedLine Citation:
PMID:  8593537     Owner:  NLM     Status:  MEDLINE    
Eighteen Italian patients presenting with sporadic, bilateral, simultaneous, or sequential optic neuritis (ON) were evaluated for 14 base changes in mitochondrial DNA (mtDNA) previously found associated with Leber's hereditary optic neuropathy (LHON), aiming to identify at a molecular level LHON cases with nontypical phenotypes. During a 36-month follow-up, 11 ON patients developed clinical or laboratory features allowing diagnosis of clinically definite multiple sclerosis (MS). None was positive for any of the "primary" LHON-associated mutations. However, single or multiple "secondary" LHON-associated sequence changes at 4216/ND1, 4917/ND2, and 13708/ND5 were detected in ON and ON-MS patients. MS controls without visual failure as well as healthy control subjects harbored the same base changes at similar frequencies. In addition, coexistence of three sequence changes was found in two cases (1 ON-MS patient and 1 MS control patient). We also report finding two new neutral sequence base changes in the ND-4 gene which were identified by SSCP and confirmed by automated DNA sequence analysis. The results suggests that these secondary mutations do not contribute to MS susceptibility in these patients, but rather represent neutral mitochondrial DNA polymorphisms. In addition, whether there are biochemical abnormalities related to single and multiple secondary mtDNA sequence changes remain to be demonstrated.
M Sartore; M Grasso; G Piccolo; R Fasani; R Bergamaschi; A Malaspina; M Ceroni; M Kobayashi; A Semeraro; E Arbustini
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Biochemical and molecular medicine     Volume:  56     ISSN:  1077-3150     ISO Abbreviation:  Biochem. Mol. Med.     Publication Date:  1995 Oct 
Date Detail:
Created Date:  1996-04-08     Completed Date:  1996-04-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9508702     Medline TA:  Biochem Mol Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  45-51     Citation Subset:  IM    
Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine 19104-4318, USA.
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MeSH Terms
Base Sequence
DNA, Mitochondrial / chemistry,  genetics*
Electron Transport / physiology
Magnetic Resonance Imaging
Middle Aged
Molecular Sequence Data
Multiple Sclerosis / genetics
Optic Atrophies, Hereditary / genetics*
Optic Neuritis / genetics*
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Reg. No./Substance:
0/DNA, Mitochondrial

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

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