Characterisation of Urine-Derived Cells for the Molecular Diagnosis of Rare Disorders.

WHY IT MATTERS

If your child needs genetic testing for a rare disorder, this research suggests urine samples could eventually replace more invasive procedures like blood draws or biopsies for molecular diagnosis.

Scientists discovered that cells found in urine can be grown in the lab and used to diagnose genetic diseases. These urine cells come from a specific part of the kidney called the glomerulus, and they have special properties that make them useful for testing. This method could make genetic diagnosis easier because urine is simple to collect compared to other tissue samples.

Characterisation of Urine-Derived Cells for the Molecular Diagnosis of Rare Disorders. Abstract: Cultured urine-derived cells (UDCs) have been proposed as a source of material for the RNA-based molecular diagnosis of genetic disorders. Previous studies have shown that UDCs can be clonally expanded, passaged, frozen, regrown and have some stem cell characteristics, but their anatomic origin and diagnostic utility remain insufficiently explored. In this study, we cultured UDCs from 40 individuals (aged 4 to 20 years; 21 females) and extracted RNA for sequencing. We compared UDC gene expression to that of marker genes of the kidney and urinary tract segments. UDC gene expression most closely matched marker genes of parietal epithelial cells that line the inner surface of Bowman's capsule in the kidney glomerulus. UDCs expressed VCAM1 (CD106) and POUF51 (OCT4), consistent with a progenito Authors: Ludwig et al. Journal: International journal of molecular sciences MeSH: Humans, Female, Child, Male, Child, Preschool, Adolescent, Young Adult, Urine, Rare Diseases, Cells, Cultured