Genetic cause of congenital malformation discovered

Genetic cause of congenital malformation discovered

Spontaneous mutations of a single gene are likely to cause serious developmental disorders of the excretory organs and genitalia. This is shown in an international study led by the University of Bonn and published in the journal Frontiers in Cell and Developmental Biology. The researchers also owe their findings to an unusual model organism: the zebrafish. One in 10,000 newborns is born with malformations of the bladder, intestines or genitals. These symptoms are part of the so-called bladder exstrophy epispadias complex, abbreviated BEEC. Since the disorder tends to run in families, it is assumed to have a genetic cause. However, up to now there has been disagreement as to exactly which genetic material is affected or whether there are even several genes involved. The recently published study sheds light on this issue. Four years ago, researchers led by Prof. Dr. Heiko Reutter from the Institute of Human Genetics at the University of Bonn discovered a gene that is abnormal in sick children. The gene bears the cryptic abbreviation SLC20A1. "We have now taken a closer look at its function," explains Magdalena Rieke, who is completing her doctorate under Prof. Reutter. The researcher also benefited from the expertise of a university working group that only marginally deals with congenital malformations: Prof. Dr. Benjamin Odermatt researches the cause of neurological diseases at the Section of Neuroanatomy. The zebrafish serves as a model organism. Not only because it can be easily kept in an appropriate habitat and reproduces quickly: Many of its genes are also found in ...
More on: www.eurekalert.org