Gene responsible for stargardt-like dominant macular dystrophy

• US 20060246048A1
• Filed: 06/28/2006
• Published: 11/02/2006
• Est. Priority Date: 05/16/2000
• Status: Active Grant

• Current Assignee: Kang Zhang, Konstantin Petrukhin, Wen Li
• Original Assignee: Kang Zhang, Konstantin Petrukhin, Wen Li
• Inventors: Li, Wen, Zhang, Kang, Petrukhin, Konstantin
• Granted Patent: US 7,179,620 B2
• Time in Patent Office: Days
• US Class Current: 424/94.500
• 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

1-19. -19. (canceled)

20. An isolated Elongation of Fatty Acids (ELF) protein, free from associated proteins, comprising the amino acid sequence set forth in FIG. 3 (SEQ ID NO:

1).

21. An ELF protein of claim 20 that is encoded by the cDNA sequence set forth in FIG. 3 (SEQ ID NO:

3).

22. A pharmaceutical composition comprising the protein of claim 20 and a pharmaceutically acceptable carrier.

23. A pharmaceutical composition according to claim 22 wherein the composition is an ophthalmic composition.

24. A method of treating, preventing or lessening the severity of Stargardt-like macular dystrophy comprising administering a pharmacologically effective amount of the composition of claim 20 to an individual at risk for or who manifests symptoms of Stargardt-like macular dystrophy.

25. A method of determining if an individual is at risk for developing symptoms of Stargardt-like macular dystrophy comprising determining if the individual carries a gene encoding the protein for a normal ELF gene (SEQ ID NO:

1) or a mutant ELF gene (SEQ ID NO;

     2), wherein individuals having the mutant ELF gene (SEQ ID NO;

     2) are deemed to be at risk for developing symptoms of Stargardt-like macular dystrophy.

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

3 encoding an ELF protein.

27. The vector of claim 26 further comprising operatively linked regulatory regions.

28. A host cell comprising a vector of claim 27.

29. A method of making an ELF protein comprising culturing a host cell of claim 28 and recovering said ELF protein.