Speaker: Francesca Conti
18 Novembre 2025 | 14:15
DEIB, Sala Seminari "A. Alario" (Ed. 21)
Contatti: Silvia Cascianelli
Sommario
A new series of seminars, entitled 'Data Science Seminars: Bioinformatics focus', will start next week. Organized by the Data Science for Bioinformatics group, these talks will take place every Tuesday at 2:15 pm.
Researchers, students, and anyone interested in the proposed topics are more than welcome to attend.Primary Mitochondrial Myopathies (PMM) are a group of mitochondrial disorders characterized by exclusive or predominant skeletal muscle involvement and caused by pathogenic variants in either mitochondrial or nuclear genes. These disorders exemplify the remarkable clinical and genetic heterogeneity typical of mitochondrial diseases, where identical mutations may give rise to distinct phenotypes and similar clinical presentations may originate from different genetic defects, making diagnosis particularly challenging. Transcriptome sequencing (RNA-seq) has recently emerged as a powerful complementary tool to genomic approaches, enabling the detection of transcriptional abnormalities that directly reflect the functional consequences of genetic variation.
In this study, RNA-seq was applied to skeletal muscle biopsies from patients affected by PMM to identify aberrant splicing and gene expression events using the FRASER and OUTRIDER algorithms, respectively. This approach aimed to improve the diagnostic yield and provide new insights into the molecular mechanisms underlying unresolved cases.
In parallel, comprehensive computational analyses were developed to explore mitochondrial transcriptomic alterations in patients carrying multiple mtDNA deletions, with a focus on the potential formation of chimeric transcripts and their translation into aberrant proteins. Finally, on this same cohort of patients, clustering analyses based on mitochondrial gene expression and deletion profiles were performed to identify patient subgroups characterized by specific molecular signatures associated with distinct causative genes and histological features.