A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNA Pro .

Autor: Ghirigato E; University of Trieste, Italy., Terenzi F; University of Trieste, Italy., Baglivo M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Zanetti N; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Baldo F; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy. Electronic address: francesco.baldo@burlo.trieste.it., Murru FM; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy., Bobbo M; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy., Barbi E; University of Trieste, Italy; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy., Zeviani M; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy., Bruno I; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy., Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Dec; Vol. 33 (12), pp. 972-977. Date of Electronic Publication: 2023 Nov 04.
DOI: 10.1016/j.nmd.2023.11.001
Abstrakt: A 16-year-old boy was evaluated for a history of exercise-induced fatigability associated with nausea even after minimal effort, lower limbs muscle hypotrophy, and swelling of the masseter muscles after chewing. Laboratory tests were remarkable for hyperlactatemia and metabolic acidosis after short physical activity. The muscle biopsy showed non-specific mitochondrial alterations and an increase in intrafibral lipids. Biochemical analysis showed reduced activity of the respiratory chain complexes. Mitochondrial DNA sequencing revealed the presence of a homoplasmic variant m.15992A>T in the MT-TP gene, coding for the mt-tRNA Pro in the patient, in his mother and in his brother. Pathogenic or likely pathogenic variants in MT-TP gene are rare. They are responsible for different clinical presentation, almost ever involving the muscle tissue. We report the first family with exercise-induced muscle weakness and swelling of the chewing muscles due to m.15992A>T variant in absence of J1c10 haplogroup, confirming its pathogenicity.
Competing Interests: Declaration of Competing Interest I declare that all the authors who wrote this manuscript do not have any competing financial interests or personal relationships that could influenced it. Francesco Baldo, on behalf of the authors
(Copyright © 2023 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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