Search Results for: Diagnosi e trattamento della cardiomiopatia ipertrofica (HCM)

In Lombardia uno studio pilota promosso da Telethon coinvolgerà 100mila neonati. Obiettivo: validare il test per la diagnosi di leucodistrofia metacromatica

Recenti pubblicazioni hanno riaperto domande sulle modalità di cura indicando percorsi da affiancare al trattamento farmacologico

La Commissione europea ha concesso l’autorizzazione per l’insulina settimanale, Awiqli di Novo Nordisk, la prima al mondo indicata per il trattamento del diabete negli adulti. «Il farmaco – spiega una nota – è progettato per coprire il fabbisogno di insulina basale per un’intera settimana con una singola iniezione sottocutanea ed è stato approvato per gli adulti con diabete mellito»

A distanza di un mese l’uno dall’altro, due centri di ricerca britannici hanno identificato un serie di proteine nel sangue che segnalano in anticipo la diagnosi di tumore

A distanza di un mese l’uno dall’altro, due centri di ricerca britannici hanno identificato un serie di proteine nel sangue che segnalano in anticipo la diagnosi di tumore

Circulation, Ahead of Print. BACKGROUND:Familial hypertrophic cardiomyopathy has severe clinical complications of heart failure, arrhythmia, and sudden cardiac death. Heterozygous single nucleotide variants (SNVs) of sarcomere genes such asMYH7are the leading cause of this type of disease. CRISPR-Cas13 (clustered regularly interspaced short palindromic repeats and their associated protein 13) is an emerging gene therapy approach for treating genetic disorders, but its therapeutic potential in genetic cardiomyopathy remains unexplored.METHODS:We developed a sensitive allelic point mutation reporter system to screen the mutagenic variants of Cas13d. On the basis of Cas13d homology structure, we rationally designed a series of Cas13d variants and obtained a high-precision Cas13d variant (hpCas13d) that specifically cleaves theMYH7variant RNAs containing 1 allelic SNV. We validated the high precision and low collateral cleavage activity of hpCas13d through various in vitro assays. We generated 2 HCM mouse models bearing distinctMYH7SNVs and used adenovirus-associated virus serotype 9 to deliver hpCas13d specifically to the cardiomyocytes. We performed a large-scale library screening to assess the potency of hpCas13d in resolving 45 humanMYH7allelic pathogenic SNVs.RESULTS:Wild-type Cas13d cannot distinguish and specifically cleave the heterozygousMYH7allele with SNV. hpCas13d, with 3 amino acid substitutions, had minimized collateral RNase activity and was able to resolve various humanMYH7pathological sequence variations that cause hypertrophic cardiomyopathy. In vivo application of hpCas13d to 2 hypertrophic cardiomyopathy models caused by distinct humanMYH7analogous sequence variations specifically suppressed the altered allele and prevented cardiac hypertrophy.CONCLUSIONS:Our study unveils the great potential of CRISPR-Cas nucleases with high precision in treating inheritable cardiomyopathy and opens a new avenue for therapeutic management of inherited cardiac diseases.

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