DHDDS Antibody

Applications of DHDDS Antibodies

DHDDS antibodies are primarily used in Western blot (WB) and immunohistochemistry (IHC) to detect enzyme expression in tissues. Key applications include:

• Western Blot:

  • Sigma-Aldrich SAB2100572: Detects a 39 kDa band in human, rat, bovine, and other species .

  • Proteintech 15099-1-AP: Validates expression in HeLa and Y79 cells, with a recommended dilution of 1:1,000–1:4,000 .

  • HPA026721/HPA026727 (Sigma): Used in retinal IHC to show intense labeling in photoreceptor inner segments .

• Immunohistochemistry:

  • Localizes DHDDS in rod/cone photoreceptors and retinal pigment epithelium .

  • Highlights enzyme distribution in tissues like liver and brain, where Dolichol metabolism is critical .

• ELISA:

  • Proteintech 15099-1-AP enables quantitative analysis of DHDDS levels .

Clinical and Research Relevance

• Retinitis Pigmentosa (RP59):

  • Mutations in DHDDS (e.g., K42E) cause RP59, characterized by shortened Dolichol chains . Antibodies detect altered enzyme activity in patient tissues .

  • Immunohistochemistry shows photoreceptor degeneration in mouse models .

• Developmental Disorders:

  • DHDDS mutations linked to DEDSM (developmental delay, epilepsy, and movement abnormalities) are diagnosed via antibody-based assays .

• Dolichol Metabolism:

  • Antibodies track Dolichol chain length changes in RP59 patients, where Dol-18/Dol-19 ratios are diagnostic .

Challenges and Considerations

• Antibody Specificity:

  • Some monoclonal antibodies (e.g., CPTC-DHDDS-1/2/3) fail to bind DHDDS in affinity assays, highlighting the need for rigorous validation .

  • Cross-reactivity varies; e.g., SAB2100572 reacts with multiple species but not mouse .

• Tissue-Specific Expression:

  • Ubiquitous expression of DHDDS complicates interpretation; retinal-specific studies require precise localization techniques .

• Optimization:

  • Titration is critical for WB/ELISA, as recommended by Proteintech .

Future Directions

• Therapeutic Monitoring:

  • Antibodies could monitor DHDDS-targeted therapies for RP59 or congenital disorders of glycosylation (CDGs) .

• Biomarker Development:

  • Quantifying Dolichol species via antibody-coupled assays may refine RP59 diagnostics .

• Cross-Species Studies:

  • Developing antibodies for non-human models (e.g., mice) is essential for translational research .