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4 articles matching "Mice"

ResearchRSS2 days ago

Brain pathway shows potential for slowing Parkinson’s, but only in females

Scientists at Texas A&M University found a protective pathway in the brain that could slow Parkinson's disease progression. This pathway involves receptors that respond to nicotine (a chemical in tobacco) but doesn't require actually using tobacco. In mice, increasing these receptors helped prevent Parkinson's symptoms — but only in female mice, not male mice.

WHY IT MATTERSThis sex-specific finding could lead to new Parkinson's treatments tailored differently for women and men, addressing a gap in how the disease progresses differently between sexes.
ℹ Good to knowParkinson's disease
ResearchPUBMEDMay 1

Chasing the ghost in the code: highlighting the mystery of a rare genetic condition.

Scientists studied a young girl with a rare genetic condition for 23 years to understand how a mutation in a gene called NKCC1 affects her health. NKCC1 is a protein that helps move salt and water in and out of cells. Researchers used her cells, lab-grown cells with the mutation, and mice with the same genetic change to figure out how this mutation causes her symptoms.

WHY IT MATTERSUnderstanding how NKCC1 mutations cause disease could lead to new treatments for patients with this rare genetic condition, moving beyond just managing symptoms.
ℹ Good to knowNKCC1-related disorder
ResearchRSSApr 22

Targeting JNK pathway may offer new treatment approach for SMA

Scientists discovered that blocking a protein pathway called JNK in the body may help treat spinal muscular atrophy (SMA), a disease that weakens muscles. In mice with severe SMA, blocking this pathway reduced how bad the disease got and helped the mice live longer. This new approach could work by itself or combined with medicines that are already approved for SMA.

WHY IT MATTERSIf this JNK pathway blocking approach moves to human trials, it could offer SMA patients a new treatment option, potentially as a combination therapy with existing approved drugs like nusinersen or onasemnogene abeparvovec.
👁 Watch this spacespinal muscular atrophy
ResearchBIORXIVApr 12

Preprint: Complementary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome

Scientists created animal models (using fish and mice) that mimic DeSanto-Shinawi Syndrome, a rare genetic disorder caused by mutations in the WAC gene. These animal models showed symptoms similar to what patients experience, including developmental delays, intellectual disability, autism-like behaviors, and seizures. This research helps scientists understand how WAC gene mutations cause these symptoms and could lead to better treatments in the future.

WHY IT MATTERSFor the first time, researchers have created animal models that reproduce the key symptoms of DeSanto-Shinawi Syndrome, which could accelerate the discovery of why patients develop autism, seizures, and developmental delays—and potentially identify new treatment targets.
👁 Watch this spaceDeSanto-Shinawi Syndrome

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