Journal ArticleDOI
Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy.
Takayuki Ozawa,Makoto Yoneda,Masashi Tanaka,Kinji Ohno,Wataru Sato,Hiroshi Suzuki,Morimitsu Nishikimi,Masahiko Yamamoto,Ikuya Nonaka,Satoshi Horai +9 more
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TLDR
It is reported that the mutant mtDNA is responsible for the maternal inheritance of a human disease, and both the start and the end of deletion were different between them, implying a novel mode of inheritance.About:
This article is published in Biochemical and Biophysical Research Communications.The article was published on 1988-08-15. It has received 135 citations till now. The article focuses on the topics: Mitochondrial myopathy & Mitochondrial DNA.read more
Citations
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Journal ArticleDOI
Mitochondrial dna mutations as an important contributor to ageing and degenerative diseases
TL;DR: It is proposed that the accumulation of mitochondrial mutations and the subsequent cytoplasmic segregation of these mutations during life is an important contributor both to the ageing process and to several human degenerative diseases.
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Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion.
Scott W. Ballinger,John M. Shoffner,Ellis V. Hedaya,Ian A. Trounce,Meraida Polak,Deborah A. Koontz,Douglas C. Wallace +6 more
TL;DR: A pedigree with maternally transmitted DM and deafness for mitochondrial DNA mutations was tested and a 10.4 kilobase mtDNA deletion was discovered, demonstrating that DM can be caused by mtDNA mutations and suggests that some of the heterogeneity of this disease results from the novel features of mtDNA genetics.
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An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.
Massimo Zeviani,Serenella Servidei,Cinzia Gellera,Enrico Bertini,Salvatore DiMauro,Stefano DiDonato +5 more
TL;DR: Sequence analysis of mutant mtDNAs showed that all the deletions start within a 12-nucleotide stretch at the 5′ end of the D-loop region, a site of active communication between the nucleus and the mtDNA, indicating that a mutation of a nuclear-coded protein can destroy the integrity of the mitochondrial genome in a specific, heritable way.
Journal ArticleDOI
Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy
John M. Shoffner,Marie T. Lott,Alexander S. Voljavec,Shawke A. Soueidan,Donal A. Costigan,Douglas C. Wallace +5 more
TL;DR: The muscle mitochondria of a patient with Kearns-Sayre/chronic external ophthalmoplegia plus syndrome were found to be completely deficient in respiratory complex I activity and partially deficient in complex IV and V activities as mentioned in this paper.
Journal ArticleDOI
Guidelines for the study of familial dilated cardiomyopathies
Luisa Mestroni,Bernhard Maisch,WJ McKenna,Ketty Schwartz,P. Charron,C. Rocco,F. Tesson,R. Richter,A. Wilke,Michel Komajda +9 more
TL;DR: This research presents a novel and scalable approach to cardiology called “SmartCardiology,” which combines real-time, mobile, and 3D image analysis of the response of the autonomic nervous system to foreign substances.
References
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Journal ArticleDOI
Sequence and organization of the human mitochondrial genome
Stephen Anderson,Alan T. Bankier,Bart Barrell,M.H.L. de Bruijn,Alan Coulson,J. Drouin,J. Drouin,Ian C. Eperon,Donald P. Nierlich,Donald P. Nierlich,Bruce A. Roe,Bruce A. Roe,Frederick Sanger,P. H. Schreier,Andrew J.H. Smith,Rodger Staden,Ian G. Young,Ian G. Young +17 more
TL;DR: The complete sequence of the 16,569-base pair human mitochondrial genome is presented and shows extreme economy in that the genes have none or only a few noncoding bases between them, and in many cases the termination codons are not coded in the DNA but are created post-transcriptionally by polyadenylation of the mRNAs.
Journal ArticleDOI
An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological study.
TL;DR: Experiments with tritiated NADH are described which demonstrate that this "external" pathway of NADH oxidation resembles stereochemically the NADH-cytochrome c reductase system of liver microsomes, and differs from the respiratory chain-linked NADH dehydrogenase.
Journal ArticleDOI
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
TL;DR: Observations demonstrate that mtDNA heteroplasmy can occur in man and that human disease may be associated with defects of the mitochondrial genome.
Journal ArticleDOI
A microspectrophotometric method for the determination of cytochrome oxidase.
S. J. Cooperstein,Arnold Lazarow +1 more
TL;DR: A microadaptation enables the measurement of the cytochrome oxidase content of as little as 4 y (wet weight) of an active tissue such as heart.
Journal ArticleDOI
Kearns-sayre syndrome with muscle mitochondrial dna deletion
Patrick Lestienne,G. Ponsot +1 more
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Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
Carlos T. Moraes,Salvatore DiMauro,Massimo Zeviani,Anne Lombès,Sara Shanske,Armand F. Miranda,Hirofumi Nakase,Eduardo Bonilla,Lineu Cesar Werneck,Serenella Servidei,Ikuya Nonaka,Yasutoshi Koga,Alfred J. Spiro,A. Keith W. Brownell,Beny Schmidt,Donald L. Schotland,Mary L. Zupanc,Darryl C. DeVivo,Eric A. Schon,Lewis P. Rowland +19 more