Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

Michelangelo Cao, Marta Donà, Maria Lucia Valentino, Claudio Semplicini, Alessandra Maresca, Matteo Cassina, Alessandra Torraco, Eva Galletta, Valeria Manfioli, Gianni Sorarù, Valerio Carelli, Roberto Stramare, Enrico Bertini, Rosalba Carozzo, Leonardo Salviati, Elena Pegoraro

Research output: Contribution to journalArticle

Abstract

Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old female presenting since childhood with mild cognitive impairment and sideroblastic anemia. She later developed hepatopathy, cardiomyopathy, and insulin-dependent diabetes. Muscle weakness appeared in adolescence and, at age 43, she was unable to walk. Two novel different mutations in the PUS1 gene were identified: c.487delA (p.I163Lfs*4) and c.884 G>A (p.R295Q). Quantitative analysis of DNA from skeletal muscle biopsies showed a significant increase in mitochondrial DNA (mtDNA) content in the patient compared to controls. Clinical and molecular findings of this patient widen the genotype-phenotype spectrum in MLASA syndrome.

Original languageEnglish
Pages (from-to)65-70
JournalNeurogenetics
Volume17
DOIs
Publication statusPublished - 2016

Keywords

  • Mitochondrial biogenesis
  • MLASA
  • mtDNA copy number
  • PUS1

ASJC Scopus subject areas

  • Genetics(clinical)
  • Cellular and Molecular Neuroscience
  • Genetics

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    Cao, M., Donà, M., Valentino, M. L., Semplicini, C., Maresca, A., Cassina, M., Torraco, A., Galletta, E., Manfioli, V., Sorarù, G., Carelli, V., Stramare, R., Bertini, E., Carozzo, R., Salviati, L., & Pegoraro, E. (2016). Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations. Neurogenetics, 17, 65-70. https://doi.org/10.1007/s10048-015-0465-x