Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.

Lodi R; Tonon C; Valentino ML; Iotti S; Clementi V; Malucelli E; Barboni P; Longanesi L; Schimpf S; Wissinger B; Baruzzi A; Barbiroli B; Carelli V

doi:10.1002/ana.20278

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.

Affiliations

1. Dipartimento di Medicina Clinica e Biotecnologia Applicata, Universita di Bologna, Bologna, Italy.
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Lodi R¹
(1 author)

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Annals of Neurology, 01 Nov 2004, 56(5):719-723
https://doi.org/10.1002/ana.20278 PMID: 15505825

Abstract

Dominant optic atrophy has been associated with mutations in the OPA1 gene, which encodes for a dynamin-related GTPase, a mitochondrial protein implicated in the formation and maintenance of mitochondrial network and morphology. We used phosphorus magnetic resonance spectroscopy to assess calf muscle oxidative metabolism in six patients from two unrelated families carrying the c.2708-2711delTTAG deletion in exon 27 of the OPA1 gene. The rate of postexercise phosphocreatine resynthesis, a measure of mitochondrial adenosine triphosphate production rate, was significantly delayed in the patients. Our in vivo results show for the first time to our knowledge a deficit of oxidative phosphorylation in OPA1-related DOA.

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References

Articles referenced by this article (19)

Title not supplied
Kjer
Acta Ophthalmol (Copenh) 1959
OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.
Delettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel CP
Mol Genet Metab, (2):97-107 2002
MED: 11855928
Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy.
Kjer P, Jensen OA, Klinken L
Acta Ophthalmol (Copenh), (2):300-312 1983
MED: 6880639
A clinicopathologic study of autosomal dominant optic atrophy.
Johnston PB, Gaster RN, Smith VC, Tripathi RC
Am J Ophthalmol, (5):868-875 1979
MED: 315716
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, Hamel CP
Nat Genet, (2):207-210 2000
MED: 11017079
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B
Nat Genet, (2):211-215 2000
MED: 11017080
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.
Olichon A, Baricault L, Gas N, Guillou E, Valette A, Belenguer P, Lenaers G
J Biol Chem, (10):7743-7746 2002
MED: 12509422
In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by 31P magnetic resonance spectroscopy.
Lodi R, Taylor DJ, Tabrizi SJ, Kumar S, Sweeney M, Wood NW, Styles P, Radda GK, Schapira AH
Ann Neurol, (4):573-579 1997
MED: 9382468
'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation.
Lodi R, Montagna P, Cortelli P, Iotti S, Cevoli S, Carelli V, Barbiroli B
Brain, 1896-1902 2000
MED: 10960053
In vivo assessment of mitochondrial functionality in human gastrocnemius muscle by 31P MRS. The role of pH in the evaluation of phosphocreatine and inorganic phosphate recoveries from exercise.
Iotti S, Lodi R, Frassineti C, Zaniol P, Barbiroli B
NMR Biomed, (4):248-253 1993
MED: 8217526

Show 9 more references (10 of 19)

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The human OPA1^delTTAG mutation induces adult onset and progressive auditory neuropathy in mice.
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Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function.
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Establishing induced pluripotent stem cell lines from two dominant optic atrophy patients with distinct OPA1 mutations and clinical pathologies.
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Review
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MICU1 controls spatial membrane potential gradients and guides Ca²⁺ fluxes within mitochondrial substructures.
Gottschalk B, Koshenov Z, Waldeck-Weiermair M, Radulović S, Oflaz FE, Hirtl M, Bachkoenig OA, Leitinger G, Malli R, Graier WF
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Diseases in OMIM

OPTIC ATROPHY 1; OPA1(OMIM - 165500)

Proteins in UniProt (Showing 5 of 8)

Dynamin-like GTPase OPA1, mitochondrial(UniProt - E5KLK0)
Dynamin-like GTPase OPA1 C-terminal domain-containing protein(UniProt - Q6PEK6)
Dynamin-like GTPase OPA1, mitochondrial(UniProt - E5KLL9)
Dynamin-like GTPase OPA1, mitochondrial(UniProt - E5KLM1)
Dynamin-like GTPase OPA1, mitochondrial(UniProt - E5KLM2)

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Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.

Affiliations

Authors

ORCIDs linked to this article

Abstract

Full text links

References

Title not supplied

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy.

A clinicopathologic study of autosomal dominant optic atrophy.

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.

In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by 31P magnetic resonance spectroscopy.

'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation.

In vivo assessment of mitochondrial functionality in human gastrocnemius muscle by 31P MRS. The role of pH in the evaluation of phosphocreatine and inorganic phosphate recoveries from exercise.

Citations & impact

Impact metrics

Citations of article over time

Article citations

The human OPA1^delTTAG mutation induces adult onset and progressive auditory neuropathy in mice.

Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function.

Establishing induced pluripotent stem cell lines from two dominant optic atrophy patients with distinct OPA1 mutations and clinical pathologies.

Current Advances in Gene Therapies of Genetic Auditory Neuropathy Spectrum Disorder.

MICU1 controls spatial membrane potential gradients and guides Ca²⁺ fluxes within mitochondrial substructures.

Data

Data that cites the article

Diseases in OMIM

Proteins in UniProt (Showing 5 of 8)

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Search life-sciences literature (45,103,589 articles, preprints and more)

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.

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Title not supplied

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