Introduction

• Essential protein for kidney filtration barrier
• Produced by NPHS1 gene
• Primary location:
• Found in podocytes
• Located in kidney glomerulus
• Critical for:
• Barrier integrity
• Proper kidney function
• Mutations cause serious kidney problems

Structure and Function Physical Structure:

• Type of glycoprotein
• Contains external region with:
• Multiple immunoglobulin-like domains
• Protein interaction capabilities
• Forms filtration slit diaphragm

Key Functions:

• Controls filtration barrier flow
• Allows passage of:
• Water
• Small solutes
• Blocks larger molecules:
• Proteins
• Red blood cells
• Prevents proteinuria

Genetic Implications and Disorders Congenital Effects:

• Causes Finnish-type congenital nephrotic syndrome
• Symptoms include:
• Protein loss in urine
• Hypoalbuminemia
• Swelling
• Treatment requires:
• Intensive care
• Dietary modifications
• Possible kidney transplants

Other Associated Conditions:

• Diabetic nephropathy
• Focal segmental glomerulosclerosis (FSGS)
• Potential therapeutic target

Cell Signalling Signalling Role:

• Controls podocyte function
• Ensures cell survival
• Interacts with:
• Neph1
• CD2AP
• Activates PI3K/Akt pathway

Response Mechanisms:

• Reacts to injury
• Responds to:
• Inflammation
• High blood pressure
• Affects podocyte:
• Stability
• Performance
• Adapts to pathological stress

Future Perspectives and Research Directions Therapeutic Development:

• Gene therapy for NPHS1 mutations
• Molecules to enhance nephrin signalling
• Biomarker development for:
• Disease detection
• Progress monitoring
• Focus on:
• Restoring nephrin activity
• Replicating nephrin effects
• Improving treatment outcomes