Publications by authors named "Martina Collotta"
Article Synopsis
- Malan Syndrome (MS) is a rare genetic disorder caused by mutations in the Nuclear Factor I X gene, leading to traits such as facial anomalies, overgrowth, intellectual disability, and behavioral issues.
- This study aimed to assess the cognitive and adaptive functioning of 15 MS individuals using various standardized tests over a period from October 2020 to January 2022.
- Findings indicated that all participants exhibited low cognitive abilities and adaptive skills, with communication being the most significantly impacted area; most subjects showed mild to moderate intellectual disability.
Leigh syndrome (LS) is an incurable, nearly always fatal, neurodegenerative, pediatric disorder that results from respiratory chain failure. The most common mitochondrial DNA (mtDNA) mutations that result in LS are m.8993T→C/G and m.
View Article and Find Full Text PDFBackground: Leigh Syndrome (LS) is a severe neurodegenerative disorder characterized by bilateral symmetrical necrotic lesions in the basal ganglia and brainstem. Onset is in early infancy and prognosis is poor. Causative mutations have been disclosed in mitochondrial DNA and nuclear genes affecting respiratory chain subunits and assembly factors.
View Article and Find Full Text PDFMaintenance and replication of mitochondrial DNA require the concerted action of several factors encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome machinery. Heterozygous mutations in its coding gene, PEO1, are associated with progressive external ophthalmoplegia (PEO) characterised by ptosis and ophthalmoparesis, with cytochrome c oxidase (COX)-deficient fibres, ragged-red fibres (RRF) and multiple mtDNA deletions in muscle.
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