Mitochondrial disorder with OPA1 mutation lacking optic atrophy

Margherita Milone, Brian R. Younge, Jing Wang, Shulin Zhang, Lee Jun Wong

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

OPA1 is highly expressed in retina and optic nerve. OPA1 mutations were first identified in patients with non-syndromic autosomal dominant optic atrophy. Recently, OPA1 mutations were detected in a multisystemic disorder which has optic atrophy as the core clinical feature and multiple mitochondrial DNA (mtDNA) deletions in muscle. We report a patient with a multisystemic disorder and multiple muscle mtDNA deletions, carrying an in-frame deletion in OPA1 in the absence of optic atrophy. This patient provides evidence that optic atrophy is not the main clinical manifestation of OPA1-related disorders. OPA1 analysis should be considered in mitochondrial disorders despite the lack of optic atrophy.

Original languageEnglish (US)
Pages (from-to)279-281
Number of pages3
JournalMitochondrion
Volume9
Issue number4
DOIs
StatePublished - Jul 2009

Fingerprint

Optic Atrophy
Mitochondrial Diseases
Mutation
Mitochondrial DNA
Autosomal Dominant Optic Atrophy
Muscular Diseases
Optic Nerve
Retina
Muscles

Keywords

  • Mitochondrial disorder
  • OPA1
  • Optic atrophy

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology
  • Molecular Medicine

Cite this

Mitochondrial disorder with OPA1 mutation lacking optic atrophy. / Milone, Margherita; Younge, Brian R.; Wang, Jing; Zhang, Shulin; Wong, Lee Jun.

In: Mitochondrion, Vol. 9, No. 4, 07.2009, p. 279-281.

Research output: Contribution to journalArticle

Milone, Margherita ; Younge, Brian R. ; Wang, Jing ; Zhang, Shulin ; Wong, Lee Jun. / Mitochondrial disorder with OPA1 mutation lacking optic atrophy. In: Mitochondrion. 2009 ; Vol. 9, No. 4. pp. 279-281.
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