The challenge of personalized cell biology: The example of microvillus inclusion disease.
Whole exome sequencing now provides a tool for rapid analysis of patients manifesting congenital diseases. Congenital diarrheal diseases provide a critical example of the challenges of combining identification of genetic mutations responsible for disease with characterization of the cell biological and cell physiological deficits observed in patients. Recent studies exploring the cellular events associated with loss of functional Myosin 5B (MYO5B) have demonstrated the importance of cell biological and physiological analyses to provide a greater understanding of the implications of pathological mutations. Development of enteroids derived from biopsies of patients with complex congenital diarrheal diseases provides a critical resource for evaluation of the cell biological impact of specific monogenic mutations on enterocyte function. The ability to identify putative causative mutations for congenital disease now provides an opportunity to coordinate the efforts of physicians and cell biologists in an effort to provide patients with personalized cell biology analysis to improve patient diagnosis and treatment.
['Goldenring|James R|JR|0000-0002-7833-2940']
D006801:Humans D008286:Malabsorption Syndromes D008871:Microvilli D009081:Mucolipidoses D024701:Myosin Type V D057285:Precision Medicine
whole exome sequencing MYO5B enterocytes DGAT1 diarrhea epithelia neonates