TY - JOUR
T1 - TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis
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.
N1 - Ricercatore distaccato presso IRCCS a seguito Convenzione esclusiva con Università di Bologna (Carelli Valerio, Contin Manuela)
PY - 2020
Y1 - 2020
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
U2 - 10.3389/fgene.2020.00860
DO - 10.3389/fgene.2020.00860
M3 - Article
VL - 11
JO - Front. Genet.
JF - Front. Genet.
SN - 1664-8021
ER -