Related Experiment Video
Updated: May 27, 2025
07:43
Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders
Published on: May 12, 2015
11.2K
Lung-specific SFTPC mutations lead to neurodevelopmental disorders with neuroinflammation
Haipeng Dong1, Congwen Zang2, Lili Liu2
1Department of Child Health Care, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China.
Biochemical and Biophysical Research Communications
|February 18, 2025
Summary
Lung SFTPC gene variants are linked to neurodevelopmental disorders (NDDs). This study reveals a novel brain-lung axis, showing SFTPC dysfunction impacts brain function and neuroinflammation.
Area of Science:
- Genetics
- Neuroscience
- Pulmonology
Background:
- Neurodevelopmental disorders (NDDs) involve complex genetic factors and central nervous system abnormalities.
- The SFTPC gene, primarily known for lung function, has an unexplored role in NDDs.
Purpose of the Study:
- To investigate the potential link between SFTPC gene variants and NDDs.
- To explore the functional consequences of SFTPC mutations on neurodevelopment and brain function.
Main Methods:
- Identified compound heterozygous SFTPC variants in NDD patients.
- Generated and analyzed a Sftpc-knock-in (Sftpc-KI) mouse model.
- Performed bioinformatic predictions, protein level analysis, neurobehavioral testing, and brain proteomics.
Main Results:
- SFTPC variants predicted as deleterious, with reduced protein levels in patients and Sftpc-KI mice.
- Sftpc-KI mice showed significant neurobehavioral impairments.
- Brain proteomic analysis revealed neuroinflammation and aberrant microglial activation (M1 markers) in Sftpc-KI mice.
Conclusions:
- Lung-specific SFTPC dysfunction is a novel factor in neurodevelopmental disorders.
- Findings suggest a previously unrecognized brain-lung axis.
- This research opens new avenues for understanding NDD molecular mechanisms.
