Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies

G. Siciliano, M. Mancuso, L. Pasquali, M. L. Manca, A. Tessa, A. Iudice

Research output: Contribution to journalArticlepeer-review

Abstract

Human mitochondrial transcription factor A (h-mtTFA or Tfam), a 25-kDa protein encoded by a nuclear gene located on chromosome 10q21, is involved in the control of replication and transcription of mtDNA. To better understand the complex relationship between h-mtTFA and mitochondrial function, we assessed by western blot the levels of h-mtTFA in skeletal muscle from 7 patients affected by mitochondrial diseases (MD) caused by different mtDNA mutations. We related these results to exercise lactate production as well as to the pathologic features of the underlying myopathy. h-mtTFA levels were significantly inversely related to blood lactate and the percent of RRF, borderline to cox negative fibers. Our results indicate that h-mtTFA may be involved in the cascade of events which determine functional impairment of MD.

Original languageEnglish
JournalNeurological Sciences
Volume21
Issue number9
Publication statusPublished - 2000

Keywords

  • Mitochondrial diseases
  • Mitochondrial DNA
  • Mitochondrial transcription factor A

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Psychiatry and Mental health
  • Dermatology

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