The maintenance of mitochondrial DNA (mtDNA) relies on proteins encoded by nuclear genes. Mutations in their coding sequences result in heterogenous clinical presentations featuring mtDNA instability in affected tissues. DNA2 is a multi-catalytic protein involved in the removal of single strand DNA during mtDNA replication or Long Patch Base Excision Repair pathway. We have previously described DNA2 mutations in adult patients affected with familial and sporadic forms of mitochondrial myopathy. Here we describe four novel probands presenting with limb weakness associated with novel DNA2 molecular defects. Biochemical assays were established to investigate the functional effects of these variants.

Novel mutations in DNA2 associated with myopathy and mtDNA instability / D. Ronchi, C. Liu, L. Caporali, D. Piga, H. Li, F. Tagliavini, M.L. Valentino, M.T. Ferrò, P. Bini, L. Zheng, V. Carelli, B. Shen, G.P. Comi. - In: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. - ISSN 2328-9503. - 6:9(2019 Sep 02), pp. 1893-1899. [10.1002/acn3.50888]

Novel mutations in DNA2 associated with myopathy and mtDNA instability

D. Ronchi
Co-primo
;
G.P. Comi
Ultimo
2019

Abstract

The maintenance of mitochondrial DNA (mtDNA) relies on proteins encoded by nuclear genes. Mutations in their coding sequences result in heterogenous clinical presentations featuring mtDNA instability in affected tissues. DNA2 is a multi-catalytic protein involved in the removal of single strand DNA during mtDNA replication or Long Patch Base Excision Repair pathway. We have previously described DNA2 mutations in adult patients affected with familial and sporadic forms of mitochondrial myopathy. Here we describe four novel probands presenting with limb weakness associated with novel DNA2 molecular defects. Biochemical assays were established to investigate the functional effects of these variants.
Settore MED/26 - Neurologia
   Assessing neuronal dysfunction in pediatric MITochondrial encephalopathies by induced pluripotent stem (iPS) cells: novel tools o investigate energetic metabolism as a potential therapeutic target
   MITiPS
   FONDAZIONE CARIPLO
   2014-1010
2-set-2019
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/673825
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