Greeting. My mom has been suffering from ALS since February 2022, and unfortunately it's a very rapid form. Yesterday we received a result from genetics and it showed a mutation in the ANG gene. Does anyone know anything more about it? In Germany, they told us that they have never encountered this before. Thanks for your help
Genetic Testing - ANG Mutation
- Thread starter Tadic
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Nikki J
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- PALS
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- 04/2014
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Very sorry about your mother. If you google ang gene mutation ALS you should get a number of hits.
ALSOD which is a database of known and suspected mutations associated with ALS classifies it as “ moderate evidence”. I believe this means that there are some indications it may be a cause or contributing factor to ALS but there is some conflicting evidence. As you know not all genetic mutations are significant. All of us have various genetic glitches. In ALSOD when they are sure a mutation is causative it is classed as definitive. So far they have not classified ang this way.
I am really sorry your geneticist apparently didn’t bother searching on this. I think in your place I might collect academic papers and abstracts online and send them to the geneticist and ask for an appointment to discuss
I am not a geneticist. My thought is that if this is causative or contributory it may either need several cofactors to manifest or be low penetrance. Penetrance refers to how likely a person carrying the mutation is to manifest an associated disease. The reason I think this is if it was causative without cofactors and or highly penetrant the experts would have been able to classify it by now. of course it could also be that it has multiple variants some being pathological but others not or maybe it is just very rare. I did see a paper saying ang mutations were not associated with ALS in Italian patients though. I don’t know these things for facts so just theorizing. Please try again with the geneticist
please also edit your profile if you are in Germany not NY. It does make a difference to answers. If you were in NY I would have recommended a genetic expert
ALSOD which is a database of known and suspected mutations associated with ALS classifies it as “ moderate evidence”. I believe this means that there are some indications it may be a cause or contributing factor to ALS but there is some conflicting evidence. As you know not all genetic mutations are significant. All of us have various genetic glitches. In ALSOD when they are sure a mutation is causative it is classed as definitive. So far they have not classified ang this way.
I am really sorry your geneticist apparently didn’t bother searching on this. I think in your place I might collect academic papers and abstracts online and send them to the geneticist and ask for an appointment to discuss
I am not a geneticist. My thought is that if this is causative or contributory it may either need several cofactors to manifest or be low penetrance. Penetrance refers to how likely a person carrying the mutation is to manifest an associated disease. The reason I think this is if it was causative without cofactors and or highly penetrant the experts would have been able to classify it by now. of course it could also be that it has multiple variants some being pathological but others not or maybe it is just very rare. I did see a paper saying ang mutations were not associated with ALS in Italian patients though. I don’t know these things for facts so just theorizing. Please try again with the geneticist
please also edit your profile if you are in Germany not NY. It does make a difference to answers. If you were in NY I would have recommended a genetic expert
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