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Family Update: November 17th, 2023

Our goal as The SPATA Foundation is to advance research and keep families informed as we do so.


Please direct any questions to info@spatafoundation.org


Summary of Information


A recent meeting with a group of researchers from the US, UK, and Germany provided some great insight on current research they’re doing on SPATA5 and SPATA5L1, and we wanted to provide everyone with information we gathered.


  • The Human Gene Nomenclature Committee is renaming SPATA5 and SPATA5L1. SPATA5 will now be known as AFG2A and SPATA5L1 will now be known as AFG2B. This will be a transition, so some places will have one or both names.


  • There is a general consensus that SPATA5 and SPATA5L1 are NOT Primary Mitochondrial Disorders, but rather protein disorders that can affect mitochondrial function. Affected or unaffected mitochondria are not mutually exclusive to one particular mutation.


  • There are two additional genes that work together with SPATA5 and SPATA5L1 and are part of our “family” called CINP and C1ORF19.


  • There is a team of doctors actively researching these genes and want to work with us. This will require getting data from us in a few ways.

    • We are working on starting an International Patient Registry. This will allow us collect and store organized data for research.

    • They would like to see any muscle biopsy results and we’re working on the best way to gather those.

    • Potentially working on a biorepository that would allow us to collect and store patient samples (blood, skin, plasma, etc).


  • If you have spoken to or know of any doctors/researchers that have shown interest in research on these genes, please let us know.


Please stay tuned for future updates regarding how to submit information for research.

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