Publications by authors named "C Marini-Bettolo"
Desmoid tumours, also known as aggressive fibromatosis, are rare tumours derived from mesenchymal stem cells, accounting for only 0.03 % of all tumours. While 85-90 % of cases are sporadic, desmoid tumours can occasionally be associated with Gardner syndrome (or Familial Adenomatous Polyposis), which is linked to variants in the tumour suppressor gene, APC (adenomatous polyposis coli) gene on chromosome 5.
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- Repeat expansion disorders (REDs) are mostly neurological diseases affecting about 1 in 3,000 people worldwide, but true prevalence may be underestimated due to varied symptoms and geographic factors.
- Analysis of genetic data from over 82,000 individuals indicates that the actual frequency of REDs is about 1 in 283, suggesting many cases go undiagnosed.
- Most REDs are found across diverse populations, countering the idea that some are limited to specific ethnic groups, which has important implications for health care and genetic counseling.
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- This study looked at four people with a muscle disease that affects their faces, eyes, and ability to move.
- The researchers found that all four had similar symptoms and looked at their DNA to understand the problem.
- They discovered that a gene called junctophilin-1 doesn't work properly in these patients, which is important for muscle function, and this could explain their muscle weakness and other symptoms.
Duchenne and Becker muscular dystrophies, caused by pathogenic variants in , are the most common inherited neuromuscular conditions in childhood. These diseases follow an X-linked recessive inheritance pattern, and mainly males are affected. The most prevalent pathogenic variants in the gene are copy number variants (CNVs), and most patients achieve their genetic diagnosis through Multiplex Ligation-dependent Probe Amplification (MLPA) or exome sequencing.
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- Late-onset Pompe Disease (LOPD) is a rare genetic disorder caused by a deficiency in an enzyme, leading to muscle damage and glycogen accumulation in cells.
- This study used advanced techniques like single nuclei RNA sequencing to explore gene expression changes in muscle biopsies from LOPD patients compared to healthy controls, revealing significant metabolic shifts and inflammatory responses in affected fibers.
- Findings suggest potential benefits of enzyme replacement therapy in restoring metabolic function, especially in healthy muscle fibers, emphasizing the importance of using modern methods to understand muscle disease at a cellular level.