Abstract
Background. Mitochondrial myopathies are regulated by two genomes: the nuclear DNA, and the mitochondrial DNA. While, so far, most studies have dealt with mitochondrial myopathies due to deletions or point mutations in the mitochondrial DNA, a new field of investigation is that of syndromes due to mutations in the nuclear DNA. These latter disorders have mendelian inheritance. Results. Three representative cases have been selected: one with COX deficiency and a Leigh syndrome due to a SURF1 gene mutation, one due to a defect of Coenzyme Q synthesis and one with dominant optic atrophy due to a mutation in the OPA1 gene. Conclusions. Future developments will show that many neurodegenerative disorders are due to mutations of nuclear genes controlling mitochondrial function, fusion and fission.
| Original language | English |
|---|---|
| Pages (from-to) | 16-23 |
| Number of pages | 8 |
| Journal | Acta Myologica |
| Volume | 28 |
| Issue number | 1 |
| Publication status | Published - 2009 |
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Keywords
- Ataxia
- Optic atrophy
- SURF1
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
Cite this
Mitochondrial disorders of the nuclear genome. / Angelini, C.; Bello, L.; Spinazzi, M.; Ferrati, C.
In: Acta Myologica, Vol. 28, No. 1, 2009, p. 16-23.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mitochondrial disorders of the nuclear genome
AU - Angelini, C.
AU - Bello, L.
AU - Spinazzi, M.
AU - Ferrati, C.
PY - 2009
Y1 - 2009
N2 - Background. Mitochondrial myopathies are regulated by two genomes: the nuclear DNA, and the mitochondrial DNA. While, so far, most studies have dealt with mitochondrial myopathies due to deletions or point mutations in the mitochondrial DNA, a new field of investigation is that of syndromes due to mutations in the nuclear DNA. These latter disorders have mendelian inheritance. Results. Three representative cases have been selected: one with COX deficiency and a Leigh syndrome due to a SURF1 gene mutation, one due to a defect of Coenzyme Q synthesis and one with dominant optic atrophy due to a mutation in the OPA1 gene. Conclusions. Future developments will show that many neurodegenerative disorders are due to mutations of nuclear genes controlling mitochondrial function, fusion and fission.
AB - Background. Mitochondrial myopathies are regulated by two genomes: the nuclear DNA, and the mitochondrial DNA. While, so far, most studies have dealt with mitochondrial myopathies due to deletions or point mutations in the mitochondrial DNA, a new field of investigation is that of syndromes due to mutations in the nuclear DNA. These latter disorders have mendelian inheritance. Results. Three representative cases have been selected: one with COX deficiency and a Leigh syndrome due to a SURF1 gene mutation, one due to a defect of Coenzyme Q synthesis and one with dominant optic atrophy due to a mutation in the OPA1 gene. Conclusions. Future developments will show that many neurodegenerative disorders are due to mutations of nuclear genes controlling mitochondrial function, fusion and fission.
KW - Ataxia
KW - Optic atrophy
KW - SURF1
UR - http://www.scopus.com/inward/record.url?scp=70349488019&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=70349488019&partnerID=8YFLogxK
M3 - Article
C2 - 19772191
AN - SCOPUS:70349488019
VL - 28
SP - 16
EP - 23
JO - Acta Myologica
JF - Acta Myologica
SN - 1128-2460
IS - 1
ER -