# US 8,771,937 B2 · Methods for diagnosing and treating a pathology associated with a synonymous mutation occuring within a gene of interest

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- Number: US 8,771,937 B2
- Document ID: US8771937B2
- Status: Granted
- Kind: B2
- Application number: 13/501,267
- Filed: 2010-10-13
- Published: 2012-11-15
- Granted: 2014-07-08
- Earliest claimed: 2009-10-13
- Assignees: Institut National De La Sante Et De La Recherche Medicale (Inserm); The Nice Sophia Antipolis University
- Applicants: Patrick Brest; Paul Hofman; Baharia Mograbi
- Inventors: Patrick Brest; Paul Hofman; Baharia Mograbi
- Web page: https://patentgrep.com/patent/US8771937B2

## CPC

- C12Q 1/6883: for diseases caused by alterations of genetic material
- A61P 29/00: Non-central analgesic, antipyretic or antiinflammatory agents, e.g. antirheumatic agents; Non-steroidal antiinflammatory drugs [NSAID]
- C12Q 2600/112: Disease subtyping, staging or classification
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q 2600/178: miRNA, siRNA or ncRNA
- 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 present invention relates to a method for diagnosing and/or prognosing a pathology (such as inflammatory disease, especially Crohn disease) associated with a synonymous mutation occurring within a gene of interest (such as IRGM, NOD2 or BSN) in a subject and to a method for treating such pathology in a subject.

## Claims

### Claim 1

An in vitro method for diagnosing and/or prognosing a pathology associated with a synonymous mutation occurring within a gene of interest in a subject, said method comprising the following steps of:
detecting said synonymous mutation in a biological sample from said subject,
measuring a level of expression of a miR which binds to a wild-type (WT) sequence of said gene of interest in said biological sample,
comparing a level of expression of said miR to a predetermined value, and
when said level of expression is higher than the predetermined value, concluding that said subject is affected with said pathology or
when said level of expression is lower than the predetermined value, concluding that said subject is not affected with said pathology.

### Claim 2 (depends on 1)

The method according to claim 1, wherein said synonymous mutation is in a coding region of the immunity-related GTPase family, M (IRGM) gene.

### Claim 3 (depends on 2)

The method according to claim 2, wherein said synonymous mutation in said IRGM gene is a 313C>T substitution.

### Claim 4 (depends on 3)

The method according to claim 3, wherein said miR is miR-196.

### Claim 5 (depends on 1)

The method according to claim 1, wherein said pathology is an inflammatory disease.

### Claim 6 (depends on 5)

The method according to claim 5, wherein said inflammatory disease is an inflammatory bowel disease such as Crohn disease and Ulcerative colitis.