TY - JOUR
T1 - TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis
AU - Ronchi, Dario
AU - Caporali, Leonardo
AU - Manenti, Giulia Francesca
AU - Meneri, Megi
AU - Mohamed, Susan
AU - Bordoni, Andreina
AU - Tagliavini, Francesca
AU - Contin, Manuela
AU - Piga, Daniela
AU - Sciacco, Monica
AU - Saetti, Cristina
AU - Carelli, Valerio
AU - Comi, Giacomo Pietro
PY - 2020/8/5
Y1 - 2020/8/5
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.
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.
KW - mitochondrial DNA instability
KW - mitochondrial DNA replication
KW - mitochondrial myopathy
KW - mitochondrial neurogatrointestinal encephalomyopathy
KW - TYMP
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U2 - 10.3389/fgene.2020.00860
DO - 10.3389/fgene.2020.00860
M3 - Article
AN - SCOPUS:85089835482
VL - 11
JO - Frontiers in Genetics
JF - Frontiers in Genetics
SN - 1664-8021
M1 - 860
ER -