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A research team at Ball State University has received a $20,000 donation from the <a href="https://www.bigtopen.com/" rel="nofollow">Todd Siebert Memorial Foundation</a> supporting work into better understanding and treating <a href="https://alsnewstoday.com/what-is-als/">amyotrophic lateral sclerosis</a> (ALS) caused by C9orf72 mutations.
Awarded to Philip Smaldino, PhD, a cell biology professor at the Indiana school, and his team, the gift prompted the formation of the Smaldino ALS/FTD Research Project Fund as part of the university&#8217;s foundation. A related neurodegenerative disorder, FTD or <a href="https://alsnewstoday.com/news/about-35-als-patients-show-signs-frontotemporal-dementia/"> frontotemporal dementia also can affect ALS patients</a>.
The project aims to contribute to further understand the underlying mechanisms of C9orf72-associated ALS and to find new treatments. In particular, the team will focus on developing therapeutic approaches that target DHX36, a protein whose inhibition may improve outcomes for people with this ALS subtype.
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<h3>C9orf72 mutations are the most common genetic cause of ALS</h3>
The Todd Siebert Memorial Foundation, which supports patients and research into C9orf72-linked ALS,  was established in 2021 to honor of Siebert, who died from disease complications that year.
Its support came on the heels of a campus visit last year by Tina Siebert, Todd Siebert&#8217;s widow, and Erin Eckerle, the foundation&#8217;s president.
“I was honored and inspired by the visit from Tina and Erin,” Smaldino said in a <a href="https://www.bsu.edu/news/press-center/archives/2024/02/todd-siebert-memorial-foundation-boosts-als-research-at-ball-state-university">university press release</a>. “The Siebert Foundation has been working tirelessly since 2021 to raise awareness and funds to support Indiana families affected by ALS.”
Mutations in the C9orf72 gene are the most common <a href="https://alsnewstoday.com/causes-of-als/#Genetics_of_ALS">genetic cause of ALS</a>, found in up to 50% of people with <a href="https://alsnewstoday.com/forms-of-als-familial-als/">familial ALS</a> and up to 10% of those with <a href="https://alsnewstoday.com/sporadic-als/">sporadic ALS</a>. Similar mutations also can be found in some FTD patients.
These mutations usually are characterized by the excessive repetition of six DNA building blocks, GGGGCC, in the gene’s sequence. These regions form &#8220;knot-like&#8221; structures that regulate the process of protein production in healthy cells. However, excessive or aberrant forms of these structures can help to drive disease processes.
DHX36 is an enzyme, a type of protein responsible for untying these knot-like structures. According to Smaldino, lowering its levels has shown potential in reducing the protein&#8217;s toxic forms in cell and mouse models of C9orf72-linked ALS.
The donation will support further exploration of this treatment approach, and contribute to the training of student scientists in innovative ALS research.
“I try to remind my students that what we are doing in the lab may someday help real people. The visit with Tina and Erin brought that idea to light in ways that my words could never have,” Smaldino said.

Tag: C9orf72 mutations

$20K gift supports Ball State work into C9orf72-linked ALS