A collection of 33 novel human mtDNA homoplasmic variants.

Marco Crimi, Monica Sciacco, Sara Galbiati, Andreina Bordoni, Giulia Malferrari, Roberto Del Bo, Ida Biunno, Nereo Bresolin, Giacomo P. Comi

Research output: Contribution to journalArticle

Abstract

Mitochondria are involved in cellular energy production via oxidative phosphorylation and this function may be damaged by any mutation in mitochondrial DNA (mtDNA). To identify novel mtDNA mutations, we have developed a program to systematically screen the entire mitochondrial genome in a large number of individuals with clinical and/or morphological features of mitochondrial dysfunction, but still no genetic diagnosis. The sequence-data were obtained with an automated rapid system, which gave us a series of information: in the eleven mitochondrial genomes analyzed we observed the presence of 33 differences from the revised Cambridge Reference Sequence (Andrews et al., 1999), but they were all homoplasmic in the patients' tissues analyzed (skeletal muscle and blood), suggesting that they are unlikely to be primarily pathogenic though they may be co-responsible in the determination of the disease. This work can therefore help complete the already ample mtDNA polymorphism existent database.

Original languageEnglish
Pages (from-to)409
Number of pages1
JournalHuman Mutation
Volume20
Issue number5
Publication statusPublished - Nov 2002

Fingerprint

Mitochondrial DNA
Mitochondrial Genome
Mutation
Oxidative Phosphorylation
Mitochondria
Skeletal Muscle
Databases

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Crimi, M., Sciacco, M., Galbiati, S., Bordoni, A., Malferrari, G., Del Bo, R., ... Comi, G. P. (2002). A collection of 33 novel human mtDNA homoplasmic variants. Human Mutation, 20(5), 409.

A collection of 33 novel human mtDNA homoplasmic variants. / Crimi, Marco; Sciacco, Monica; Galbiati, Sara; Bordoni, Andreina; Malferrari, Giulia; Del Bo, Roberto; Biunno, Ida; Bresolin, Nereo; Comi, Giacomo P.

In: Human Mutation, Vol. 20, No. 5, 11.2002, p. 409.

Research output: Contribution to journalArticle

Crimi, M, Sciacco, M, Galbiati, S, Bordoni, A, Malferrari, G, Del Bo, R, Biunno, I, Bresolin, N & Comi, GP 2002, 'A collection of 33 novel human mtDNA homoplasmic variants.', Human Mutation, vol. 20, no. 5, pp. 409.
Crimi M, Sciacco M, Galbiati S, Bordoni A, Malferrari G, Del Bo R et al. A collection of 33 novel human mtDNA homoplasmic variants. Human Mutation. 2002 Nov;20(5):409.
Crimi, Marco ; Sciacco, Monica ; Galbiati, Sara ; Bordoni, Andreina ; Malferrari, Giulia ; Del Bo, Roberto ; Biunno, Ida ; Bresolin, Nereo ; Comi, Giacomo P. / A collection of 33 novel human mtDNA homoplasmic variants. In: Human Mutation. 2002 ; Vol. 20, No. 5. pp. 409.
@article{a9392ee0fa98446da6ed73742775ad80,
title = "A collection of 33 novel human mtDNA homoplasmic variants.",
abstract = "Mitochondria are involved in cellular energy production via oxidative phosphorylation and this function may be damaged by any mutation in mitochondrial DNA (mtDNA). To identify novel mtDNA mutations, we have developed a program to systematically screen the entire mitochondrial genome in a large number of individuals with clinical and/or morphological features of mitochondrial dysfunction, but still no genetic diagnosis. The sequence-data were obtained with an automated rapid system, which gave us a series of information: in the eleven mitochondrial genomes analyzed we observed the presence of 33 differences from the revised Cambridge Reference Sequence (Andrews et al., 1999), but they were all homoplasmic in the patients' tissues analyzed (skeletal muscle and blood), suggesting that they are unlikely to be primarily pathogenic though they may be co-responsible in the determination of the disease. This work can therefore help complete the already ample mtDNA polymorphism existent database.",
author = "Marco Crimi and Monica Sciacco and Sara Galbiati and Andreina Bordoni and Giulia Malferrari and {Del Bo}, Roberto and Ida Biunno and Nereo Bresolin and Comi, {Giacomo P.}",
year = "2002",
month = "11",
language = "English",
volume = "20",
pages = "409",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "John Wiley and Sons Inc.",
number = "5",

}

TY - JOUR

T1 - A collection of 33 novel human mtDNA homoplasmic variants.

AU - Crimi, Marco

AU - Sciacco, Monica

AU - Galbiati, Sara

AU - Bordoni, Andreina

AU - Malferrari, Giulia

AU - Del Bo, Roberto

AU - Biunno, Ida

AU - Bresolin, Nereo

AU - Comi, Giacomo P.

PY - 2002/11

Y1 - 2002/11

N2 - Mitochondria are involved in cellular energy production via oxidative phosphorylation and this function may be damaged by any mutation in mitochondrial DNA (mtDNA). To identify novel mtDNA mutations, we have developed a program to systematically screen the entire mitochondrial genome in a large number of individuals with clinical and/or morphological features of mitochondrial dysfunction, but still no genetic diagnosis. The sequence-data were obtained with an automated rapid system, which gave us a series of information: in the eleven mitochondrial genomes analyzed we observed the presence of 33 differences from the revised Cambridge Reference Sequence (Andrews et al., 1999), but they were all homoplasmic in the patients' tissues analyzed (skeletal muscle and blood), suggesting that they are unlikely to be primarily pathogenic though they may be co-responsible in the determination of the disease. This work can therefore help complete the already ample mtDNA polymorphism existent database.

AB - Mitochondria are involved in cellular energy production via oxidative phosphorylation and this function may be damaged by any mutation in mitochondrial DNA (mtDNA). To identify novel mtDNA mutations, we have developed a program to systematically screen the entire mitochondrial genome in a large number of individuals with clinical and/or morphological features of mitochondrial dysfunction, but still no genetic diagnosis. The sequence-data were obtained with an automated rapid system, which gave us a series of information: in the eleven mitochondrial genomes analyzed we observed the presence of 33 differences from the revised Cambridge Reference Sequence (Andrews et al., 1999), but they were all homoplasmic in the patients' tissues analyzed (skeletal muscle and blood), suggesting that they are unlikely to be primarily pathogenic though they may be co-responsible in the determination of the disease. This work can therefore help complete the already ample mtDNA polymorphism existent database.

UR - http://www.scopus.com/inward/record.url?scp=18544393317&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=18544393317&partnerID=8YFLogxK

M3 - Article

C2 - 12402350

AN - SCOPUS:18544393317

VL - 20

SP - 409

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 5

ER -