The Fanconi Anemia (FA) pathway comprises 23 genes and their protein products that contribute to repairing DNA when it is damaged. It also assists during DNA replication, transcription and in other cellular processes. The 23 genes and proteins cooperate to remove interstrand crosslinks that are caused by either external or internal factors. In this way , the FA pathway contributes to maintaining genomic integrity.
If both copies of any one of the FA genes inherited from mum and dad both contain a mutation, then Fanconi Anemia disorder manifests.
FA is characterised by bone marrow failure and early onset cancers. It is diagnosed by exaggerated chromosome breakage in response to DNA cross linking agents such as mitomycin C (MMC) or diepoxybutane (DEB).
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