Mitochondrial DNA depletion in Leigh syndrome

James J. Filiano, Michael J. Goldenthal, Alexander C. Mamourian, Cara C. Hall, José Marín-García

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Leigh syndrome is a heterogenous neurologic disease characterized by seizures, developmental delay, muscle weakness, respiratory abnormalities, optic abnormalities, including atrophy and ophthalmoplegia, and progressive cranial nerve degeneration with early onset in infants and children. Diagnosis can be confirmed by characteristic pathologic findings of necrosis in the basal ganglia, thalamus, and brainstem. Severe dysfunction of mitochondrial energy metabolism is generally present and involved in the etiology of this degenerative central nervous system disease. At the molecular level, a number of point mutations have been located in mitochondrial DNA genes, including ATPase6 and tRNALys genes, and in nuclear genes encoding subunits of oxidative enzymes, such as pyruvate dehydrogenase. Biochemically these mutations are responsible for enzymatic defects in either respiratory complexes (I, IV, or V) or pyruvate dehydrogenase. We describe here the first case of Leigh syndrome with marked depletion of mitochondrial DNA levels in skeletal muscle and abnormal activities in skeletal muscle of mitochondrial respiratory complexes I, III, IV, and V.

Original languageEnglish (US)
Pages (from-to)239-242
Number of pages4
JournalPediatric Neurology
Volume26
Issue number3
DOIs
StatePublished - Apr 22 2002

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Leigh Disease
Electron Transport Complex I
Pyruvic Acid
Mitochondrial DNA
Oxidoreductases
Skeletal Muscle
RNA, Transfer, Lys
Ophthalmoplegia
Nerve Degeneration
Mitochondrial Genes
Cranial Nerves
Muscle Weakness
Basal Ganglia
Nervous System Diseases
Thalamus
Point Mutation
Neurodegenerative Diseases
Energy Metabolism
Genes
Brain Stem

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Filiano, J. J., Goldenthal, M. J., Mamourian, A. C., Hall, C. C., & Marín-García, J. (2002). Mitochondrial DNA depletion in Leigh syndrome. Pediatric Neurology, 26(3), 239-242. https://doi.org/10.1016/S0887-8994(01)00377-0
Filiano, James J. ; Goldenthal, Michael J. ; Mamourian, Alexander C. ; Hall, Cara C. ; Marín-García, José. / Mitochondrial DNA depletion in Leigh syndrome. In: Pediatric Neurology. 2002 ; Vol. 26, No. 3. pp. 239-242.
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Filiano, JJ, Goldenthal, MJ, Mamourian, AC, Hall, CC & Marín-García, J 2002, 'Mitochondrial DNA depletion in Leigh syndrome', Pediatric Neurology, vol. 26, no. 3, pp. 239-242. https://doi.org/10.1016/S0887-8994(01)00377-0

Mitochondrial DNA depletion in Leigh syndrome. / Filiano, James J.; Goldenthal, Michael J.; Mamourian, Alexander C.; Hall, Cara C.; Marín-García, José.

In: Pediatric Neurology, Vol. 26, No. 3, 22.04.2002, p. 239-242.

Research output: Contribution to journalArticle

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Filiano JJ, Goldenthal MJ, Mamourian AC, Hall CC, Marín-García J. Mitochondrial DNA depletion in Leigh syndrome. Pediatric Neurology. 2002 Apr 22;26(3):239-242. https://doi.org/10.1016/S0887-8994(01)00377-0