Talking Phones
Dear Members,
I wish you an early Happy Valentine's Day! I also wanted to pass along information about a phone tool and a few ideas and article links shared by members with me. I like to collect a few 'goodies' at a time before passing them along.
Recipes: One of my members asked me about good recipes for meals that are delicious and easy to eat, but I don't think I've asked about this before. We've shared tips about good posture, double swallowing, chin tucking, adding applesauce/thickeners, using straws, pureeing foods, and such, but that's not the same as sharing recipes. Does anyone know of any good recipes or cookbooks with ideas for easy to eat delicious meals? If not, maybe we should pull together some ideas--Susan's AR&DG might help with this also. Hopefully more creative than the mac n' cheese, mac n' cheese, or mac n' cheese that my kids eat!
Research: I shared with my last e-mail about the successful publication of our questionnaire (attached), but I want to emphasize that we still have unanswered questions. For example, there was an association with playing school sports and earlier age of onset, but we don't know yet about whether this is related to head trauma or whether the 'sports' association is causative versus associated with something else that is causative. So, playing school sports is still generally good for kids (and adults), but avoiding head trauma seems like a good idea for anyone regardless of ataxia risk. Likewise, it is hard to know whether higher education is protective in and of itself or whether it is associated with other socioeconomic or demographic factors that have a protective effect.
Another member shared with me a few articles about some great research progress by the Watt lab up in Canada, please check out the links below. It seems the Watts lab understands a bit about the involvement of the 'abnormal activity of the α1ACT transcription factor,' the transcription factor that was first highlighted by the Gomez lab as the causal factor of SCA6.
Mitochondrial damage and impaired mitophagy contribute to disease progression in SCA6
Previous work in our lab shows that around disease onset, BDNF-TrkB signaling contributes to SCA6, and that activating this signaling pathway can reverse ataxia at early disease stages [14]. However, we found that as disease progresses, BDNF-TrkB signaling is no longer sufficient to reverse ataxia, suggesting that other mechanisms likely contribute to SCA6 as disease progresses. Mitochondrial dysfunction aligns with the timeline of disease progression: it worsens as the disease worsens.
'How the CAG expansion mutation leads to these changes remains to be determined, although alterations in mitochondrial genes expression due to abnormal activity of the α1ACT transcription factor are likely to be involved [17].'
The reference 17 is to Dr. Gomez's manu: Du X, Wang J, Zhu H, Rinaldo L, Lamar KM, Palmenberg AC, Hansel C, Gomez CM. Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6. Cell. 2013
In a prior study by Watt lab:
In SCA6 mouse models, to see if the endosomal deficits could be corrected, the researchers tested a drug called 7,8-DHF and found that the compound corrected for the cellular abnormalities, enabling the misplaced proteins to get to where they needed to go. "This drug is effectively acting as a traffic cop," Watt said. "It gets the traffic moving again, allowing key signaling molecules to get to the cellular locations where they are needed to work."
Different summary of same study:
More articles by Watt lab: https://wattlabmcgill.ca/watt-homepage-2/publication/
Best wishes,
Terry
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