Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNA(Trp) gene

F. M. Santorelli, K. Tanji, M. Sano, S. Shanske, M. El-Shahawi, P. Kranz-Eble, S. DiMauro, D. C. De Vivo

Research output: Contribution to journalArticlepeer-review

Abstract

We identified a single thymidine insertion at nucleotide position 5537 ((T5537i)) in the mitochondrial DNA transfer RNA gene for tryptophan in a family in which the proband had a progressive neurological disorder and his brother died in infancy of Leigh syndrome. Muscle biopsy from the proband showed subsarcolemmal proliferation of mitochondria and decreased activities of oxidative metabolism enzymes, in particular complex IV. Complex IV was also severely reduced in autopsy tissues, including heart and brain tissues, from the Leigh syndrome infant. The novel T(5537i) mutation was very abundant in tissues from the proband and the infant (>92%) and less abundant (range, 42-89%) in blood, hair follicles, and skin fibroblasts from 4 maternal relatives, 3 of whom showed a neuropsychiatric disturbance. The mutation was not found in more than 100 control subjects. The degree of heteroplasmy in blood correlated well with the severity of the clinical presentation, suggesting specific segregation with the disease.

Original languageEnglish
Pages (from-to)256-260
Number of pages5
JournalAnnals of Neurology
Volume42
Issue number2
DOIs
Publication statusPublished - Aug 1997

ASJC Scopus subject areas

  • Neuroscience(all)

Fingerprint

Dive into the research topics of 'Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNA(Trp) gene'. Together they form a unique fingerprint.

Cite this