Gene responsible for Stargardt-like dominant macular dystrophy

• US 7,091,005 B2
• Filed: 05/11/2001
• Issued: 08/15/2006
• Est. Priority Date: 05/16/2000
• Status: Expired due to Fees

• Current Assignee: Johns Hopkins University, Merck & Co., Inc.
• Original Assignee: Merck & Co., Inc.
• Inventors: Li, Wen, Zhang, Kang, Petrukhin, Konstantin
• Primary Examiner(s): Saidha, Tekchand
• Application Number:
  US10/276,732
• Publication Number:
  US 20040067226A1
• Time in Patent Office: 1,922 Days
• Field of Search: 435/69.1, 435/252.3, 435/320.1, 536/23.1
• US Class Current: 435/69.1
• CPC Class Codes: A61K 38/00 Medicinal preparations containing peptides peptides containing beta-lactam rings A61K31/00; cyclic dipeptides not having in their molecule any other peptide link than those which form their ring, e.g. piperazine-2,5-diones, A61K31/00; ergot alkaloids of the cyclic peptide type A61K31/48; containing macromolecular compounds having statistically distributed amino acid units A61K31/74; medicinal preparations containing antigens or antibodies A61K39/00; medicinal preparations characterised by the non-active ingredients, e.g. peptides as drug carriers, A61K47/00
• CPC Class Codes: C07K 14/705 Receptors; Cell surface antigens; Cell surface determinants tumour specific antigens C07K14/4748
• CPC Class Codes: C12Q 1/6883 for diseases caused by alterations of genetic material
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers
• CPC Class Codes: C12Q 2600/158 Expression markers

Abstract

The gene responsible for Stargardt-like macular dystrophy has been identified, along with its normal allelic form. The mutant gene encodes a mutant protein containing a frameshift mutation, resulting in abnormal fatty acid synthesis and transport in the retina. Also disclosed are assays for Stargardt-like macular dystrophy and therapies.

Claims

1. An isolated Elongation of Fatty Acids (ELF) protein, free from associated proteins, comprising the amino acid sequence set forth in FIG. 4 (SEQ ID NO:

2).

2. An ELF protein of claim 1 that is encoded by the cDNA sequence set forth in FIG. 4 (SEQ ID NO:

4).

3. A vector comprising an ELF expression cassette, wherein said expression cassette comprises cDNA sequence of SEQ ID NO:

4 encoding an ELF protein.

4. The vector of claim 3 further comprising operatively linked regulatory regions.

5. A host cell comprising a vector of claim 4.

6. A method of making an ELF protein comprising culturing a host cell of claim 5 and recovering said ELF protein.