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La ricerca, condotta dall\u2019Irccs Ospedale San Raffaele in collaborazione con l\u2019Istituto di tecnologie biomediche del Cnr di Milano e pubblicata su Human Molecular Genetics, apre nuove prospettive per lo studio delle basi genetiche della malattia\n\nLa sindrome di Brugada \u00e8 una patologia cardiaca spesso asintomatica che si manifesta con aritmie improvvise e talvolta mortali in pazienti senza evidenti alterazioni cardiache. Fino ad oggi si conoscono 22 geni associati alla malattia, tuttavia solo nel 30% dei casi si identifica la mutazione causativa. Uno studio frutto della collaborazione tra l\u2019Istituto di ricovero e cura a carattere scientifico (Irccs) San Raffaele di Milano, una delle 18 strutture di eccellenza del Gruppo ospedaliero San Donato, e l\u2019Istituto di tecnologie biomediche del Consiglio nazionale delle ricerche (Itb-Cnr) di Milano, ha analizzato 158 geni in 91 pazienti con una chiara diagnosi clinica, sfruttando un\u2019avanzata tecnica di sequenziamento del DNA che ha permesso di identificare 4 nuovi possibili geni candidati, finora associati ad altre cardiopatie.\n\nIl lavoro aggiunge un importante tassello nel quadro complesso della genetica della sindrome di Brugada, malattia che ha una prevalenza stimata di 5 persone su 10.000 e si trasmette per via autosomica dominante: questo significa che la probabilit\u00e0 di trasmettere la patologia \u00e8 del 50% ad ogni gravidanza.\n\nLa ricerca, pubblicata su Human Molecular Genetics, \u00e8 stata coordinata da Maurizio Ferrari, direttore del Laboratorio di biologia molecolare clinica del San Raffaele e docente di Patologia clinica all\u2019Universit\u00e0 Vita-Salute San Raffaele, e condotto insieme a Roberta Bordoni dell\u2019Itb-Cnr, e Paolo Della Bella, primario dell\u2019Unit\u00e0 di aritmologia dell\u2019Ospedale San Raffaele.\n\n\u201cI risultati suggeriscono un\u2019eziologia comune fra diverse patologie cardiache. \u00c8 importante ora definire meglio con ulteriori approfondimenti e studi genetici pi\u00f9 ampi il ruolo patogenetico di questi nuovi geni, affinch\u00e9 queste scoperte possano fornire ai clinici uno strumento utile nell\u2019identificare precocemente i pazienti affetti\u201d, afferma Ferrari. \u201cEd \u00e8 grazie a un approccio ad alta risoluzione come il sequenziamento di nuova generazione\u201d, conclude Bordoni, \u201cche siamo stati in grado di produrre una quantit\u00e0 enorme di dati, fondamentale per caratterizzare una casistica genetica di questa portata\u201d.", "tags": ["avanti", "brugada", "di", "importante", "passo", "sindrome", "un"], "url": "https://premiosapio.wordpress.com/2015/10/08/sindrome-di-brugada-un-importante-passo-avanti/", "lastmodified": "2015-10-09 11:16:15", "usage_data": {"layouts": 0.0, "users": 0}, "created": "2015-10-09 11:16:15", "id": 1197, "shortUrl": "premiosapio.wordpress.com", "role_permission": ["biogpsusers"], "short_description": "Uno studio genetico su una coorte di pazienti affetti da sindrome di Brugada evidenzia 4 nuovi geni candidati associati alla malattia...", "in": "plugin", "owner": {"username": "premiosapio_2015", "url": "/profile/9271/premiosapio_2015", "name": "premiosapio_2015"}, "permission_style": "public", "type": "iframe", "species": ["human", "mouse", "rat", "fruitfly", "nematode", "zebrafish", "thale-cress", "frog", "pig"], "name": "Sindrome di Brugada: un importante passo avanti"}, {"rating_data": {"avg_stars": 0, "total": 0, "avg": 0}, "options": null, "popularity": 0.0, "description": " ", "tags": ["id", "unigene"], "url": "reactomere", "lastmodified": "2016-02-21 21:58:36", "usage_data": {"layouts": 0.0, "users": 0}, "created": "2016-02-21 21:44:26", "id": 1205, "shortUrl": "reactomere", "role_permission": ["biogpsusers"], "short_description": "unigene", "in": "plugin", "owner": {"username": "lilitmaria_", "url": "/profile/9690/lilitmaria_", "name": "Lilit Antonyan"}, "permission_style": "public", "type": "iframe", "species": ["human", "mouse", "rat", "fruitfly", "nematode", "zebrafish", "thale-cress", "frog", "pig"], "name": "my plugin"}, {"rating_data": {"avg_stars": 0, "total": 0, "avg": 0}, "options": null, "popularity": 0, "description": " ", "tags": ["mouse", "mousedatabase"], "url": "http://www.informatics.jax.org/searchtool/Search.do?query={{symbol}}", "lastmodified": "2016-02-21 23:25:31", "usage_data": {"layouts": 0, "users": 0}, "created": "2016-02-21 23:25:31", "id": 1212, "shortUrl": "www.informatics.jax.org", "role_permission": ["biogpsusers"], "short_description": "", "in": "plugin", "owner": {"username": "lilitmaria_", "url": "/profile/9690/lilitmaria_", "name": "Lilit Antonyan"}, "permission_style": "public", "type": "iframe", "species": ["human", "mouse", "rat", "fruitfly", "nematode", "zebrafish", "thale-cress", "frog", "pig"], "name": "Mouse Genome database"}, {"rating_data": {"avg_stars": 0, "total": 0, "avg": 0}, "options": null, "popularity": 0, "description": "Biocompare is a leading resource for up-to-date product information, product reviews, and new technologies for life scientists. 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