Weekly Spotlight - 19.12.24

Intermediate CAG Repeats in HTT Gene Linked to ALS Severity

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Research shows intermediate CAG repeats in the HTT gene worsen ALS severity. This study examined ALS patients, finding these repeats linked to faster disease progression. Understanding this connection may help improve patient care and outcomes, offering hope for better management of ALS in the future.


The article explores the importance of accurately sequencing CAG triplet repeats, crucial for understanding Huntington’s disease. It highlights the need for new sequencing methods to profile these repeats, addressing challenges and opportunities in diagnostics and therapy. The focus is on improving understanding and treatment of neurodegenerative disorders.


Isothiocyanates (ITCs) trigger autophagy and halt protein synthesis in primary and cancer cells by modulating the AMPK-mTORC1-S6K1 pathway. This process does not harm cell viability and may protect against Huntington’s disease by preventing harmful protein aggregation, offering hope for future therapeutic developments.


Twelve-year-old Emma Wajswasser from Toronto wrote Bloopy the Alien Learns about Huntington’s Disease to educate others about her grandpa’s condition. The book promotes empathy and understanding for those with rare diseases, using a heartwarming story to teach kindness and compassion.

Source: The International Huntington’s Disease Association

Health Spotlight’s Huntington’s Disease is a Contentive publication in the Healthcare division