New gene discovered: Fanconi anemia puts children at greater risk than expected!

New gene discovered: Fanconi anemia puts children at greater risk than expected!

An international research team led by the Julius Maximilian University of Würzburg has identified a new gene that leads to Fanconi anemia (FA). This discovery expands our understanding of the genetic causes of this rare inherited disease, which manifests itself through congenital malformations and progressive bone marrow failure. FA is also associated with an increased risk of cancer, particularly blood and mucosal cancers, and is caused by mutations in 22 known FANC genes. The newly discovered gene, FAAP100, was identified at the university's Institute of Human Genetics and could provide crucial information for diagnosis and genetic counseling, according to uni-wuerzburg.de and the results published in *The Journal of Clinical Investigation*.

The function of the FAAP100 gene is central to DNA damage repair. Mutations in this gene affect the DNA repair mechanisms that are disrupted in FA patients, particularly chemical cross-links of the DNA double strand. These disorders can have serious consequences because errors in the genetic material caused by environmental influences and internal cell processes are not adequately repaired. This can lead to various diseases, including cancer, as well gesundheitsforschung-bmbf.de highlights.

Significance of the discovery

FAAP100 is now added to the list of genetic causes of Fanconi anemia as FANCX. These findings not only support clinical diagnosis but could also be of great importance for patients whose FA has not yet been diagnosed. According to the researchers, ruling out Fanconi anemia is necessary before starting certain treatments, further underscoring the importance of these new findings.

Research into the DNA repair process is particularly important because FA proteins are involved in the repair of interstrand crosslinks (ICLs) during DNA replication. The monoubiquitination of the FANCI and FANCD2 proteins plays a key role in the DNA repair pathway. This requires additional proteins such as FANCL, which function as an E3 ubiquitin ligase. Alterations or deficiencies in any subunit of the FA core complex can directly lead to Fanconi anemia, which is why these studies provide a deeper insight into the genetic basis of the disease, as well fanconi.org notes.

Future research

In addition to the new findings, the research team plans to further investigate the connection between Fanconi anemia and hereditary cancers. Particular attention is also paid to the possible role of the FANCX-related form of the disease in unexplained miscarriages, which will be examined in the context of further research projects.

The collaboration includes research groups from the USA, such as the National Institutes on Aging as well as the University of Miami and the National Human Genome Research Institute. Funding is provided by the Schroeder-Kurth Fund and the Federal Ministry of Education and Research, which underlines the relevance and scope of this international research.

Overall, the discovery of the FAAP100 gene and the knowledge about how the FA proteins function shows the need for sound genetic counseling and improved medical care for affected families. The epidemiologist Professor Christian Peter Kratz emphasizes the importance of such research results for individual advice and support for those affected.