Primary Distal Renal Tubular Acidosis
Why do more people from Tunisia and North Africa have Primary Distal Renal Tubular Acidosis?
In many people from Tunisia and North Africa there is a common change or variant in the ATP6V1B1 gene called p.I386Afs*56. When this gene change is passed down from both parents, it causes primary distal renal tubular acidosis in their child. This gene change happened over 2400 years ago and was passed down through the generations in North Africa. One theory is that the gene change started in someone from the Berber (or Amazigh) ethnic group that lived throughout North Africa. As the group had children, the gene change became more common in the groups. The gene change then traveled with immigrants, sailors, traders, and explorers around the Mediterranean Sea during the Phoenician period into North Africa and Southern Europe.
Nagara, M., Voskarides, K., Nouira, S., Ben Halim, N., Kefi, R., Aloulou, H., Romdhane, L., Ben Abdallah, R., Ben Rhouma, F., Aissa, K., Boughamoura, L., Kammoun, T., Azzouz, H., Abroug, S., Ben Turkia, H., Ayadi, A., Mrad, R., Chabchoub, I., Hachicha, M., Chemli, J., Deltas, C., ... Abdelhak, S. (2014). Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations. Genetic testing and molecular biomarkers, 18(11), 741-8.