MZ Solution Successfully Produces Pig Model for Alport Syndrome Disease

MGeneSolution announced on the 2nd that it has developed a disease model pig exhibiting Alport syndrome, a type of hereditary kidney disease.

MGeneSolution developed this disease model pig through joint research with the Seoul National University College of Medicine (Professor An Gyuri, Dr. Kim Hyunho) team and the National Institute of Animal Science. They completed verification as a disease model through monitoring over approximately 30 months.

This study involved using gene-editing technology to remove the type IV collagen gene (COL4A), which is involved in the production of collagen that forms the glomerular basement membrane in pig kidneys.

The newborn pigs were confirmed to have a complete deletion of the COL4A gene through genotyping tests. During the survival period of 24 to over 30 months, they showed increased proteinuria in urine tests, elevated blood urea nitrogen (BUN) levels, and interstitial fibrosis in histological examinations.

Detailed observation with electron microscopy revealed damage to the glomerular basement membrane and structural changes in podocytes, exhibiting typical clinical symptoms of human Alport syndrome.

Alport syndrome is a disease characterized by abnormalities in the glomerular basement membrane within the kidney, causing hematuria and other kidney function impairments. It is considered the most common representative hereditary kidney disease leading to end-stage renal failure. It occurs due to abnormalities in the COL4A gene related to type IV collagen protein located on the X chromosome. Globally, it affects approximately 1 in 5,000 to 10,000 people. Male patients tend to exhibit more severe symptoms than females.

In addition to kidney symptoms, it is accompanied by abnormalities in other organs such as hearing loss and eye disorders. Currently, there is no fundamental treatment. There are no special preventive measures, and effective experimental animal models for disease-related research have not been developed, causing difficulties in treatment and research.

A company representative explained, “Pigs have been used in biomedical research for a long time and share similar size and anatomical and physiological characteristics with humans, making them suitable for surgical procedures.” He added, “Because long-term follow-up studies are possible, pigs have great value as models for human genetic diseases.” He further noted, “Due to these advantages, pigs are gaining attention as animal models for genetic and rare diseases.”

According to MGeneSolution, the research related to the production of this Alport syndrome disease model will be presented at an international conference held in the United States in June. The scheduled conference is the SBR (Swine in Biomedical Research Conference 2024), a prestigious international conference in the field of transgenic pig research in medicine and pharmaceuticals.