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Article ; Online: Challenges in promoter methylation analysis in the new era of translational oncology: a focus on liquid biopsy.

Mio, Catia / Damante, Giuseppe

Biochimica et biophysica acta. Molecular basis of disease

2022 Volume 1868, Issue 6, Page(s) 166390

Abstract: Toward the discovery of novel reliable biomarkers, epigenetic alterations have been repeatedly proposed for the diagnosis and the development of therapeutic strategies against cancer. Indeed, for promoter methylation to actively become a tumor marker for ...

Abstract	Toward the discovery of novel reliable biomarkers, epigenetic alterations have been repeatedly proposed for the diagnosis and the development of therapeutic strategies against cancer. Indeed, for promoter methylation to actively become a tumor marker for clinical use, it must be combined with a highly informative technology evaluated in an appropriate biospecimen. Methodological standardization related to epigenetic research is, in fact, one of the most challenging tasks. Moreover, tissue-based biopsy is being complemented and, in some cases, replaced by liquid biopsy. This review will highlight the advancements made for both pre-analytical and analytical implementation for the prospective use of methylation biomarkers in clinical settings, with particular emphasis on liquid biopsy.
MeSH term(s)	Biomarkers, Tumor/analysis ; Biomarkers, Tumor/genetics ; DNA Methylation ; Liquid Biopsy ; Medical Oncology ; Prospective Studies
Chemical Substances	Biomarkers, Tumor
Language	English
Publishing date	2022-03-14
Publishing country	Netherlands
Document type	Journal Article ; Review
ZDB-ID	60-7
ISSN	1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
ISSN (online)	1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
ISSN	0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
DOI	10.1016/j.bbadis.2022.166390
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Article ; Online: RNA Profile of Cell Bodies and Exosomes Released by Tumorigenic and Non-Tumorigenic Thyroid Cells.

Maggisano, Valentina / Capriglione, Francesca / Mio, Catia / Bulotta, Stefania / Damante, Giuseppe / Russo, Diego / Celano, Marilena

International journal of molecular sciences

2024 Volume 25, Issue 3

Abstract: Tumor cells release exosomes, extracellular vesicle containing various bioactive molecules such as protein, DNA and RNA. The analysis of RNA molecules packaged in exosomes may provide new potential diagnostic or prognostic tumor biomarkers. The treatment ...

Abstract	Tumor cells release exosomes, extracellular vesicle containing various bioactive molecules such as protein, DNA and RNA. The analysis of RNA molecules packaged in exosomes may provide new potential diagnostic or prognostic tumor biomarkers. The treatment of radioiodine-refractory aggressive thyroid cancer is still an unresolved clinical challenge, and the search for biomarkers that are detectable in early phase of the disease has become a fundamental goal for thyroid cancer research. By using transcriptome analysis, this study aimed to analyze the gene expression profiles of exosomes secreted by a non-tumorigenic thyroid cell line (Nthy-ori 3.1-exo) and a papillary thyroid cancer (TPC-1-exo) cell line, comparing them with those of cell bodies (Nthy-ori 3.1-cells and TPC-1-cells). A total of 9107 transcripts were identified as differentially expressed when comparing TPC-1-exo with TPC-1-cells and 5861 when comparing Nthy-ori 3.1-exo with Nthy-ori 3.1-cells. Among them,
MeSH term(s)	Humans ; RNA/metabolism ; Exosomes/metabolism ; Cell Body/metabolism ; Cell Body/pathology ; Iodine Radioisotopes/metabolism ; Cell Line, Tumor ; Thyroid Neoplasms/pathology ; Biomarkers, Tumor/genetics ; Biomarkers, Tumor/metabolism ; Cell Proliferation
Chemical Substances	RNA (63231-63-0) ; Iodine Radioisotopes ; Biomarkers, Tumor
Language	English
Publishing date	2024-01-24
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms25031407
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Article ; Online: NK2 homeobox gene cluster: Functions and roles in human diseases.

Mio, Catia / Baldan, Federica / Damante, Giuseppe

Genes & diseases

2022 Volume 10, Issue 5, Page(s) 2038–2048

Abstract: NK2 genes ( ...

Abstract	NK2 genes (
Language	English
Publishing date	2022-10-11
Publishing country	Netherlands
Document type	Journal Article ; Review
ZDB-ID	2821806-1
ISSN	2352-3042 ; 2352-3042
ISSN (online)	2352-3042
ISSN	2352-3042
DOI	10.1016/j.gendis.2022.10.001
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Article ; Online: Role of m6A RNA Methylation in Thyroid Cancer Cell Lines.

Allegri, Lorenzo / Baldan, Federica / Molteni, Elisabetta / Mio, Catia / Damante, Giuseppe

International journal of molecular sciences

2022 Volume 23, Issue 19

Abstract: N6-methyladenosine (m6A) is the most abundant internal modification of RNA in eukaryotic cells, and, in recent years, it has gained increasing attention. A good amount of data support the involvement of m6A modification in tumorigenesis, tumor ... ...

Abstract	N6-methyladenosine (m6A) is the most abundant internal modification of RNA in eukaryotic cells, and, in recent years, it has gained increasing attention. A good amount of data support the involvement of m6A modification in tumorigenesis, tumor progression, and metastatic dissemination. However, the role of this RNA modification in thyroid cancer still remains poorly investigated. In this study, m6A-related RNA methylation profiles are compared between a normal thyroid cell line and different thyroid cancer cell lines. With this approach, it was possible to identify the different patterns of m6A modification in different thyroid cancer models. Furthermore, by silencing METTL3, which is the main player in the RNA methylation machinery, it was possible to evaluate the impact of m6A modification on gene expression in an anaplastic thyroid cancer model. This experimental approach allowed us to identify
MeSH term(s)	Cell Line ; Humans ; Methylation ; Methyltransferases/genetics ; Methyltransferases/metabolism ; RNA/metabolism ; Thyroid Carcinoma, Anaplastic ; Thyroid Neoplasms/genetics
Chemical Substances	RNA (63231-63-0) ; Methyltransferases (EC 2.1.1.-) ; METTL3 protein, human (EC 2.1.1.62)
Language	English
Publishing date	2022-09-29
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms231911516
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Article ; Online: Filamin C (FLNC) truncating mutation in a fatal arrhythmogenic left ventricular cardiomyopathy (ALVC).

Simonit, Francesco / Da Broi, Ugo / D'Elia, Angela Valentina / Fabbro, Dora / Mio, Catia / Bussani, Rossana / Pinamonti, Maurizio / Desinan, Lorenzo

Legal medicine (Tokyo, Japan)

2024 Volume 69, Page(s) 102438

Abstract: Forensic pathologists are frequently asked to investigate cases of sudden death (SD), and identifying the cause of death can be of particular importance, especially where it may be necessary to perform family screening among the relatives of the victim. ... ...

Abstract	Forensic pathologists are frequently asked to investigate cases of sudden death (SD), and identifying the cause of death can be of particular importance, especially where it may be necessary to perform family screening among the relatives of the victim. A multidisciplinary approach inclusive of genetic analysis is therefore strongly recommended. According to forensic practice, arrhythmogenic cardiomyopathy (ACM) is a well-known cause of SD. However, cases of SD caused by a left ventricular pattern of ACM diagnosed at autopsy are rarely reported in the literature. We present the case of an apparently healthy, 37-year-old male found dead at his home. At autopsy, multiple foci of epicardial and mid-wall fibrous and fibro-adipose tissue were observed within the left ventricle and, to a lesser extent, within the interventricular septum. Toxicology was negative, whereas a filamin C truncating mutation was detected through genetic analysis. To our knowledge, this is the first instance of arrhythmogenic left ventricular cardiomyopathy being diagnosed at autopsy.
Language	English
Publishing date	2024-03-26
Publishing country	Ireland
Document type	Case Reports
ZDB-ID	2019555-2
ISSN	1873-4162 ; 1344-6223
ISSN (online)	1873-4162
ISSN	1344-6223
DOI	10.1016/j.legalmed.2024.102438
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Article ; Online: A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia.

Fabbro, Dora / Mio, Catia / Fogolari, Federico / Damante, Giuseppe

Journal of human genetics

2021 Volume 66, Issue 12, Page(s) 1177–1180

Abstract: SPG6 accounts for 1% of autosomal dominant Hereditary Spastic Paraplegia (HSP) and is caused by pathogenic variants in NIPA1, which encodes a magnesium transporter located in plasma membrane and early endosomes, implicated in neuronal development and ... ...

Abstract	SPG6 accounts for 1% of autosomal dominant Hereditary Spastic Paraplegia (HSP) and is caused by pathogenic variants in NIPA1, which encodes a magnesium transporter located in plasma membrane and early endosomes, implicated in neuronal development and maintenance. Here we report a 39-year-old woman affected by progressive gait disturbance associated to absence seizures episodes within childhood. Clinical exome sequencing identified a likely pathogenic de novo heterozygous variant in NIPA1 (NM_144599.5 c.249 C > G; p.Asn83Lys). Molecular modelling was performed to evaluate putative functional consequence of the NIPA1 protein. Indeed, the Asn83Lys modification is predicted to induce a significant perturbation of the protein structure, altering signal transduction or small-molecule transport by modulating the length of the second transmembrane domain. This is the first study reporting a SPG6-affected patient harbouring the NIPA1 p.Asn83Lys mutation.
MeSH term(s)	Adult ; Alleles ; Amino Acid Substitution ; Female ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Genotype ; Humans ; Membrane Proteins/genetics ; Mutation, Missense ; Phenotype ; Spastic Paraplegia, Hereditary/diagnosis ; Spastic Paraplegia, Hereditary/genetics
Chemical Substances	Membrane Proteins ; NIPA1 protein, human
Language	English
Publishing date	2021-06-09
Publishing country	England
Document type	Journal Article
ZDB-ID	1425192-9
ISSN	1435-232X ; 1434-5161
ISSN (online)	1435-232X
ISSN	1434-5161
DOI	10.1038/s10038-021-00941-x
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Article ; Online: Pro-Inflammatory Microenvironment Modulates the Transfer of Mutated TP53 Mediated by Tumor Exosomes.

Domenis, Rossana / Cifù, Adriana / Mio, Catia / Fabris, Martina / Curcio, Francesco

International journal of molecular sciences

2021 Volume 22, Issue 12

Abstract: Exosomes released from tumor cells are instrumental in shaping the local tumor microenvironment to allow cancer progression. Recently, it has been shown that tumor exosomes carry large fragments of dsDNA, which may reflect the mutational status of ... ...

Abstract	Exosomes released from tumor cells are instrumental in shaping the local tumor microenvironment to allow cancer progression. Recently, it has been shown that tumor exosomes carry large fragments of dsDNA, which may reflect the mutational status of parental cells. Although it has been described that a stressful microenvironment can influence exosomal cargo, the effects on DNA packing and its transfer into recipient cells have yet to be investigated. Here, we report that exosomes derived from SW480 (human colorectal adenocarcinoma cell line) cells can carry dsDNA fragments containing the entire coding sequence of both
MeSH term(s)	Cell Transformation, Neoplastic/genetics ; Cell Transformation, Neoplastic/pathology ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/pathology ; Exosomes/genetics ; Humans ; Inflammation Mediators/immunology ; Mutation ; Tumor Cells, Cultured ; Tumor Microenvironment/immunology ; Tumor Suppressor Protein p53/genetics
Chemical Substances	Inflammation Mediators ; TP53 protein, human ; Tumor Suppressor Protein p53
Language	English
Publishing date	2021-06-10
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms22126258
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Article ; Online: Rare germline variants in DNA repair-related genes are accountable for papillary thyroid cancer susceptibility.

Mio, Catia / Verrienti, Antonella / Pecce, Valeria / Sponziello, Marialuisa / Damante, Giuseppe

Endocrine

2021 Volume 73, Issue 3, Page(s) 648–657

Abstract: Background: Understanding the molecular mechanisms underlying papillary thyroid cancer (PTC) proved to be vital not only for diagnostic purposes but also for tailored treatments. Despite the strong evidence of heritability, only a small subset of ... ...

Abstract	Background: Understanding the molecular mechanisms underlying papillary thyroid cancer (PTC) proved to be vital not only for diagnostic purposes but also for tailored treatments. Despite the strong evidence of heritability, only a small subset of alterations has been implicated in PTC pathogenesis. To this reason, we used targeted next-generation sequencing (NGS) to identify candidate variants implicated in PTC pathogenesis, progression, and invasiveness. Methods: A total of 42 primary PTC tissues were investigated using a targeted next-generation sequencing (NGS) panel enlisting 47 genes involved in DNA repair and tumor progression. Results: We identified 57 point mutations in 78.5% of samples (n = 32). Thirty-two somatic mutations were identified exclusively in known thyroid cancer genes (BRAF, KRAS, NRAS, and TERT). Unpredictably, 45% of the all identified mutations (n = 25) resulted to be germline, most affecting DNA repair genes. Interestingly, none of the latter variants was in the main population databases. Following ACMG classification, 20% of pathogenic/likely pathogenic and 68% of variant of unknown significance were identified. Conclusions: Overall, our results support the hypothesis that rare germline variants in DNA repair genes are accountable for PTC susceptibility. More data, including the segregation analysis in affected families, should be collected before definitely annotate these alterations and to establish their potential prognostic and treatment implications.
MeSH term(s)	DNA Repair/genetics ; Germ Cells ; Germ-Line Mutation ; Humans ; Mutation ; Proto-Oncogene Proteins B-raf/genetics ; Thyroid Cancer, Papillary/genetics ; Thyroid Neoplasms/genetics
Chemical Substances	Proto-Oncogene Proteins B-raf (EC 2.7.11.1)
Language	English
Publishing date	2021-04-05
Publishing country	United States
Document type	Journal Article
ZDB-ID	1194484-5
ISSN	1559-0100 ; 1355-008X ; 0969-711X
ISSN (online)	1559-0100
ISSN	1355-008X ; 0969-711X
DOI	10.1007/s12020-021-02705-1
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Article: Brain Endothelial Cells Activate Neuroinflammatory Pathways in Response to Early Cerebral Small Vessel Disease (CSVD) Patients' Plasma.

Cifù, Adriana / Janes, Francesco / Mio, Catia / Domenis, Rossana / Pessa, Maria Elena / Garbo, Riccardo / Curcio, Francesco / Valente, Mariarosaria / Fabris, Martina

Biomedicines

2023 Volume 11, Issue 11

Abstract: The pathogenesis of cerebral small vessel disease (CSVD) is largely unknown. Endothelial disfunction has been suggested as the turning point in CSVD development. In this study, we tested the effect of plasma from CSVD patients on human cerebral ... ...

Abstract	The pathogenesis of cerebral small vessel disease (CSVD) is largely unknown. Endothelial disfunction has been suggested as the turning point in CSVD development. In this study, we tested the effect of plasma from CSVD patients on human cerebral microvascular endothelial cells with the aim of describing the pattern of endothelial activation. Plasma samples from three groups of young subjects have been tested: PTs (subjects affected by early stage CSVD); CTRLs (control subjects without abnormalities at MRI scanning); BDs (blood donors). Human Brain Endothelial Cells 5i (HBEC5i) were treated with plasma and total RNA was extracted. RNAs were pooled to reduce gene expression-based variability and NGS analysis was performed. Differentially expressed genes were highlighted comparing PTs, CTRLs and BDs with HBEC5i untreated cells. No significantly altered pathway was evaluated in BD-related treatment. Regulation of p38 MAPK cascade (GO:1900744) was the only pathway altered in CTRL-related treatment. Indeed, 36 different biological processes turned out to be deregulated after PT treatment of HBEC5i, i.e., the cytokine-mediated signaling pathway (GO:0019221). Endothelial cells activate inflammatory pathways in response to stimuli from CSVD patients' plasma, suggesting the pathogenetic role of neuroinflammation from the early asymptomatic phases of cerebrovascular disease.
Language	English
Publishing date	2023-11-14
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2720867-9
ISSN	2227-9059
ISSN	2227-9059
DOI	10.3390/biomedicines11113055
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Article ; Online: Molecular defects in thyroid dysgenesis.

Mio, Catia / Grani, Giorgio / Durante, Cosimo / Damante, Giuseppe

Clinical genetics

2019 Volume 97, Issue 1, Page(s) 222–231

Abstract: Congenital hypothyroidism (CH) is a neonatal endocrine disorder that might occur as itself or be associated to congenital extra-thyroidal defects. About 85% of affected subjects experience thyroid dysgenesis (TD), characterized by defect in thyroid gland ...

Abstract	Congenital hypothyroidism (CH) is a neonatal endocrine disorder that might occur as itself or be associated to congenital extra-thyroidal defects. About 85% of affected subjects experience thyroid dysgenesis (TD), characterized by defect in thyroid gland development. In vivo experiments on null mice paved the way for the identification of genes involved thyroid morphogenesis and development, whose mutation has been strongly associated to TD. Most of them are thyroid-specific transcription factors expressed during early thyroid development. Despite the arduous effort in unraveling the genetics of TD in animal models, up to now these data have been discontinuously confirmed in humans and only 5% of TD have associated with known null mice-related mutations (mainly PAX8 and TSHR). Notwithstanding, the advance in genetic testing represented by the next-generation sequencing (NGS) approach is steadily increasing the list of genes whose highly penetrant mutation predisposes to TD. In this review we intend to outline the molecular bases of TD, summarizing the current knowledge on thyroid development in both mice and humans and delineating the genetic features of its monogenetic forms. We will also highlight current strategies to enhance the insight into the non-Mendelian mechanisms of abnormal thyroid development.
MeSH term(s)	Animals ; Congenital Hypothyroidism/genetics ; Congenital Hypothyroidism/pathology ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Mice ; Mutation/genetics ; Thyroid Dysgenesis/genetics ; Thyroid Dysgenesis/pathology ; Thyroid Gland/abnormalities ; Thyroid Gland/pathology
Language	English
Publishing date	2019-08-27
Publishing country	Denmark
Document type	Journal Article ; Review
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.13627
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