Compositions and methods for treating vascular malformation and related conditions

US11452737B2 · kind B2 · utility

Assignees

• THE JOHNS HOPKINS UNIVERSITY · US
• Duke University · US
• Kennedy Krieger Institute, Inc. · US

Inventors

• Anne Comi · Baltimore, US
• Jonathan Pevsner · Baltimore, US
• Zhenhua Huang · Beijing, CN
• Doug Marchuk · Chapel Hill, US

Key dates

• Filing date: Jul 28, 2016
• Grant date: Sep 27, 2022
• Expiry date: May 10, 2037

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q2600/156
• WIPO field: Pharmaceuticals
• WIPO sector: Chemistry

Abstract

In one aspect, the present invention features a method of inhibiting proliferation and/or reducing survival of a cell comprising a GNAQ polynucleotide or polypeptide having a R183Q or Q209L mutation, comprising contacting the cell with puromycin or a puromycin analog, thereby inhibiting proliferation and/or reducing survival of the cell. In another aspect, a method of treating a vascular malformation or related condition in a subject, comprising administering to the subject an effective amount of puromycin or a puromycin analog is featured. In another aspect, the present invention features a method of identifying a candidate agent that modulates a GNAQ R183Q or Q209L mutation-associated disease, comprising contacting a cell comprising a GNAQ polynucleotide or polypeptide having a R183Q or Q209L mutation with puromycin and a candidate agent and comparing viability of the contacted cell with a reference level of viability, wherein an alteration in viability indicates that the candidate agent modulates the GNAQ R183Q or Q209L mutation-associated disease.