LDAH抗体;LDAH Antibody—艾普蒂

The LDAH (Lipoid proteinosis of Urbach-Wiethe disease-associated protein) antibody is primarily associated with studying the pathogenesis of lipoid proteinosis, a rare autosomal recessive disorder also known as Urbach-Wiethe disease. This condition is linked to mutations in the ECM1 gene, which encodes extracellular matrix protein 1 (ECM1), crucial for skin integrity, angiogenesis, and tissue remodeling. LDAH, though not directly synonymous with ECM1. is often referenced in research exploring ECM1 dysfunction. Patients with lipoid proteinosis exhibit hyaline material deposition in skin, mucous membranes, and brain tissues, leading to symptoms like hoarseness, skin thickening, and neurological abnormalities. Antibodies targeting LDAH-related proteins (e.g., ECM1) are used to detect protein expression patterns, assess tissue pathology, and investigate disease mechanisms. Such antibodies enable immunohistochemical analysis of biopsy samples, aiding diagnosis and research into therapeutic strategies. Additionally, they help elucidate ECM1's role in maintaining basement membrane structure and its interaction with extracellular components. Understanding LDAH-associated pathways may provide insights into broader connective tissue disorders and potential targeted therapies.