A New Mitochondrial DNA Mutation in ND3 Gene Causing Severe Leigh Syndrome with Early Lethality

Marco Crimi, Alexandros Papadimitriou, Sara Galbiati, Phani Palamidou, Francesco Fortunato, Andreina Bordoni, Urania Papandreou, Dimitra Papadimitriou, George M. Hadjigeorgiou, Eurydiki Drogari, Nereo Bresolin, Giacomo Pietro Comi

Research output: Contribution to journalArticlepeer-review


We describe a new mitochondrial DNA mutation in a male infant who presented clinical and magnetic resonance imaging features of Leigh syndrome and died at the age of 9 mo. The patient's development was reportedly normal in the first months of life. At the age of 5 mo, he presented severe generalized hypotonia, nystagmus, and absent eye contact. Laboratory examination showed increased lactate and pyruvate in both serum and cerebrospinal fluid. Brain magnetic resonance imaging revealed multiple necrotic lesions in the basal ganglia, brain stem, and thalamus, Muscle histopathology was unremarkable, whereas respiratory chain enzyme analysis revealed a severe complex I deficiency. The patient died after an acidotic coma at age 9 mo. Sequence analysis of the entire mtDNA disclosed a new T10158C mutation with variable tissue heteroplasm (muscle: 83%; blood: 48%). The mutation was undetectable in the blood of his unaffected mother. The transition changes a serine residue into a proline, in a highly conserved region of the NADH dehydrogenase subunit 3 (ND3). This is the first description of a mitochondrial ND3 gene in Leigh syndrome with early lethality.

Original languageEnglish
Pages (from-to)842-846
Number of pages5
JournalPediatric Research
Issue number5
Publication statusPublished - May 2004

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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