# US 9,040,238 B2 · Polynucleotides for use in medicine

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- Number: US 9,040,238 B2
- Document ID: US9040238B2
- Status: Granted
- Kind: B2
- Application number: 13/380,147
- Filed: 2010-06-22
- Published: 2012-11-01
- Granted: 2015-05-26
- Earliest claimed: 2009-06-22
- Assignees: Max-DelbrüCk-Centrum FüR Molekulare Medizin Berlin-Buch
- Applicants: Michael Gotthardt; Norbert Hübner; Marion Lewis Greaser; Wei Guo
- Inventors: Michael Gotthardt; Norbert Hübner; Marion Lewis Greaser; Wei Guo
- Web page: https://patentgrep.com/patent/US9040238B2

## CPC

- C12Q 1/6853: using modified primers or templates
- A61P 9/00: Drugs for disorders of the cardiovascular system
- C12Q 1/6883: for diseases caused by alterations of genetic material
- C12Q 2535/125: Allele specific primer extension
- C12Q 2535/131: Allele specific probes
- C12Q: MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- A61P: SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS

## Abstract

The invention refers to polynucleotides selected from the group consisting of a) polynucleotides encoding for the polypeptide RBM20 comprising a P638L mutation for a human polypeptide RBM20, or a P641L mutation for a rat polypeptide RBM20, b) polynucleotides with a reverse complementary sequence of the polynucleotide of a) above, and c) polynucleotides with an identity at least 50% to a polynucleotide of a) or b) above.

## Claims

### Claim 1

A method for diagnosing or monitoring a cardiac disease in a biological sample obtained from a subject, comprising:
determining the presence of a P638L mutation or a P641L mutation in a RBM20 transcript or in a RBM20 protein in a sample from a human or a rat, respectively, and
deducing from the presence of at least a P638L mutation according to SEQ ID NO. 5 or at least a P641L mutation according to SEQ ID NO. 6 that the subject suffers from a cardiac disease.

### Claim 2 (depends on 1)

The method of claim 1, wherein the cardiac disease is selected from the group consisting of cardiomyopathy and Sudden Cardiac Death (SCD).

### Claim 3 (depends on 2)

The method of claim 2, wherein the cardiomyopathy is selected from the group consisting of restrictive cardiomyopathy (RCM), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVC).

### Claim 4

A kit for diagnosing, prognosing, or monitoring a cardiac disease in a subject, comprising
a means for determining a mutation in a RBM20 transcript or in a RBM20 protein in a biological sample from a human wherein the mutation comprises at least a P638L mutation according to SEQ ID No. 5 or at least a P641L mutation according to SEQ ID NO. 6.

### Claim 5 (depends on 4)

The kit of claim 4, wherein the means for determining the P638L or the P641L mutation is selected from the group consisting of a probe for detecting the mutation, and a primer for amplifying a nucleic acid molecule encoding at least one of the mutations in an amplification reaction and/or in a sequencing reaction.

### Claim 6 (depends on 2)

The method of claim 2, wherein the cardiomyopathy is a fibrotic heart disease.

### Claim 7 (depends on 2)

The method of claim 2, wherein the Sudden Cardiac Death (SCD) is selected from the group consisting of arrhythmia-related death and ventricular conduction-related death.

### Claim 8 (depends on 3)

The method of claim 3, wherein the cardiomyopathy is dilated cardiomyopathy (DCM).

### Claim 9 (depends on 4)

The kit of claim 4, wherein the mutation is futher selected from the group consisting of R634Q, R636S, R636H and S637G.