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.
| Original language | English |
|---|---|
| Pages (from-to) | 1893-1899 |
| Journal | Annals of Clinical and Translational Neurology |
| Volume | 6 |
| Issue number | 9 |
| DOIs | |
| Publication status | Published - 2019 |
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ASJC Scopus subject areas
- Neuroscience(all)
- Clinical Neurology
Cite this
Novel mutations in DNA2 associated with myopathy and mtDNA instability. / Ronchi, Dario; Liu, Changwei; Caporali, Leonardo; Piga, Daniela; Li, Hongzhi; Tagliavini, Francesca; Valentino, Maria Lucia; Ferrò, Maria Teresa; Bini, Paola; Zheng, Li; Carelli, Valerio; Shen, Binghui; Comi, Giacomo Pietro.
In: Annals of Clinical and Translational Neurology, Vol. 6, No. 9, 2019, p. 1893-1899.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Novel mutations in DNA2 associated with myopathy and mtDNA instability
AU - Ronchi, Dario
AU - Liu, Changwei
AU - Caporali, Leonardo
AU - Piga, Daniela
AU - Li, Hongzhi
AU - Tagliavini, Francesca
AU - Valentino, Maria Lucia
AU - Ferrò, Maria Teresa
AU - Bini, Paola
AU - Zheng, Li
AU - Carelli, Valerio
AU - Shen, Binghui
AU - Comi, Giacomo Pietro
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85071646913&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85071646913&partnerID=8YFLogxK
U2 - 10.1002/acn3.50888
DO - 10.1002/acn3.50888
M3 - Article
AN - SCOPUS:85071646913
VL - 6
SP - 1893
EP - 1899
JO - Annals of Clinical and Translational Neurology
JF - Annals of Clinical and Translational Neurology
SN - 2328-9503
IS - 9
ER -