TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis: Frontiers in Genetics

D. Ronchi; L. Caporali; G.F. Manenti; M. Meneri; S. Mohamed; A. Bordoni; F. Tagliavini; M. Contin; D. Piga; M. Sciacco; C. Saetti; V. Carelli; G.P. Comi

doi:10.3389/fgene.2020.00860

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis: Frontiers in Genetics

D. Ronchi, L. Caporali, G.F. Manenti, M. Meneri, S. Mohamed, A. Bordoni, F. Tagliavini, M. Contin, D. Piga, M. Sciacco, C. Saetti, V. Carelli, G.P. Comi

Istituto Scienze Neurologiche

Research output: Contribution to journal › Article › peer-review

Abstract

Biallelic TYMP variants result in the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a juvenile-onset disorder with progressive course and fatal outcome. Milder late-onset (>40 years) form has been rarely described. Gene panel sequencing in a cohort of 60 patients featuring muscle accumulation of mitochondrial DNA (mtDNA) deletions detected TYMP defects in three subjects (5%), two of them with symptom onset in the fifth decade. One of the patients only displayed ptosis and ophthalmoparesis. Biochemical and molecular studies supported the diagnosis. Screening of TYMP is recommended in adult patients with muscle mtDNA instability, even in the absence of cardinal MNGIE features. © Copyright © 2020 Ronchi, Caporali, Manenti, Meneri, Mohamed, Bordoni, Tagliavini, Contin, Piga, Sciacco, Saetti, Carelli and Comi.

Original language	English
Journal	Front. Genet.
Volume	11
DOIs	https://doi.org/10.3389/fgene.2020.00860
Publication status	Published - 2020

Keywords

mitochondrial DNA instability
mitochondrial DNA replication
mitochondrial myopathy
mitochondrial neurogatrointestinal encephalomyopathy
TYMP

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TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis : Frontiers in Genetics. / Ronchi, D.; Caporali, L.; Manenti, G.F.; Meneri, M.; Mohamed, S.; Bordoni, A.; Tagliavini, F.; Contin, M.; Piga, D.; Sciacco, M.; Saetti, C.; Carelli, V.; Comi, G.P.

In: Front. Genet., Vol. 11, 2020.

Research output: Contribution to journal › Article › peer-review

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abstract = "Biallelic TYMP variants result in the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a juvenile-onset disorder with progressive course and fatal outcome. Milder late-onset (>40 years) form has been rarely described. Gene panel sequencing in a cohort of 60 patients featuring muscle accumulation of mitochondrial DNA (mtDNA) deletions detected TYMP defects in three subjects (5%), two of them with symptom onset in the fifth decade. One of the patients only displayed ptosis and ophthalmoparesis. Biochemical and molecular studies supported the diagnosis. Screening of TYMP is recommended in adult patients with muscle mtDNA instability, even in the absence of cardinal MNGIE features. {\textcopyright} Copyright {\textcopyright} 2020 Ronchi, Caporali, Manenti, Meneri, Mohamed, Bordoni, Tagliavini, Contin, Piga, Sciacco, Saetti, Carelli and Comi.",

keywords = "mitochondrial DNA instability, mitochondrial DNA replication, mitochondrial myopathy, mitochondrial neurogatrointestinal encephalomyopathy, TYMP",

author = "D. Ronchi and L. Caporali and G.F. Manenti and M. Meneri and S. Mohamed and A. Bordoni and F. Tagliavini and M. Contin and D. Piga and M. Sciacco and C. Saetti and V. Carelli and G.P. Comi",

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T2 - Frontiers in Genetics

AU - Ronchi, D.

AU - Caporali, L.

AU - Manenti, G.F.

AU - Meneri, M.

AU - Mohamed, S.

AU - Bordoni, A.

AU - Tagliavini, F.

AU - Contin, M.

AU - Piga, D.

AU - Sciacco, M.

AU - Saetti, C.

AU - Carelli, V.

AU - Comi, G.P.

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N2 - Biallelic TYMP variants result in the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a juvenile-onset disorder with progressive course and fatal outcome. Milder late-onset (>40 years) form has been rarely described. Gene panel sequencing in a cohort of 60 patients featuring muscle accumulation of mitochondrial DNA (mtDNA) deletions detected TYMP defects in three subjects (5%), two of them with symptom onset in the fifth decade. One of the patients only displayed ptosis and ophthalmoparesis. Biochemical and molecular studies supported the diagnosis. Screening of TYMP is recommended in adult patients with muscle mtDNA instability, even in the absence of cardinal MNGIE features. © Copyright © 2020 Ronchi, Caporali, Manenti, Meneri, Mohamed, Bordoni, Tagliavini, Contin, Piga, Sciacco, Saetti, Carelli and Comi.

AB - Biallelic TYMP variants result in the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a juvenile-onset disorder with progressive course and fatal outcome. Milder late-onset (>40 years) form has been rarely described. Gene panel sequencing in a cohort of 60 patients featuring muscle accumulation of mitochondrial DNA (mtDNA) deletions detected TYMP defects in three subjects (5%), two of them with symptom onset in the fifth decade. One of the patients only displayed ptosis and ophthalmoparesis. Biochemical and molecular studies supported the diagnosis. Screening of TYMP is recommended in adult patients with muscle mtDNA instability, even in the absence of cardinal MNGIE features. © Copyright © 2020 Ronchi, Caporali, Manenti, Meneri, Mohamed, Bordoni, Tagliavini, Contin, Piga, Sciacco, Saetti, Carelli and Comi.

KW - mitochondrial DNA instability

KW - mitochondrial DNA replication

KW - mitochondrial myopathy

KW - mitochondrial neurogatrointestinal encephalomyopathy

KW - TYMP

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JO - Front. Genet.

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