Summary: Researchers have discovered a novel genetic illness caused by a gene in the SPAG9 protein that affects both neurodevelopment and aging. The study identified three sisters with intellectual disability, talk difficulties, and liberal mental decline, linking the gene to problems in brain structure and function.
Fmri revealed abnormalities such as idiocy, synaptic malrotation, and cognitive atrophy. This study expands our understanding of how biological mutations affect mental health and opens up new avenues for developing and aging brain conditions.
Important Facts:
- A mutation in the SPAG9 gene results in both developmental and neurological effects.
- The symptoms presents with philosophical disability, speech difficulties, and cognitive decline.
- Neuroscience showed head abnormalities, including hydrocephalus and degeneration.
Origin: Genomic Press
Researchers from the University of Antioquia have made a groundbreaking discovery by identifying a novel genetic disorder that bridges the gap between developmental problems and neurological conditions.
The peer-reviewed investigation, published in , Genomic Psychiatry, facts a autosomal mutation in the SPAG9 protein that leads to a complex neurological trait characterized by intellectual disability, talk difficulties, and progressive cognitive drop.
Dr. Natalia Acosta-Baena, the study’s lead author, explains,” This finding is significant because it provides a special window into how a second genetic changes may affect both mental development and long-term neurological health. The crossing of these two crucial areas of science is a unique opportunity.
The research team observed three siblings who were affected by the disorder while watching a Brazilian family for more than ten years. Their extensive view included genomic analysis, neuroscience, and long-term clinical study, providing a rich database that offers insights into the syndrome’s development over time.
Key findings of the study include:
1. Identification of a homozygous deletion in the SPAG9 gene ( c. 2742del, p. Tyr914Ter ) as the cause of the syndrome.
2. Detailed clinical description of the affected people, revealing a variety of symptoms including intellectual illness, cataracts, and neurological indicators.
3. Information of a progressive cognitive drop, implying that the syndrome has a neurological component.
4. Imaging results showing diverse mind abnormalities, including idiocy, cortical malrotation, changes in corpus callosum construction, metal deposition, and cerebral and cerebellar atrophy.
This syndrome provides a unique model for studying how disruptions in cellular transport mechanisms can lead to both developmental and degenerative brain conditions, according to Dr. Carlos Andrés Villegas-Lanau, senior author of the study. It has potential to have a significant impact on our understanding of more prevalent neurological conditions.
The SPAG9 gene, previously unstudied in the context of brain disorders, is known to play a crucial role in cellular transport processes. The researchers make the hypothesis that the mutation impairs the retrograde axonal transport system, which is essential for maintaining neuronal function and health.
” Our findings suggest that SPAG9 is essential for normal brain development and long-term neuronal survival”, adds Dr. Acosta-Baena.
This” could lead to new avenues for therapeutic interventions,” not just for this uncommon syndrome but also for a range of different neurological conditions.
The study’s long-term follow-up of affected individuals provides valuable insights into the natural history of the syndrome, showing how symptoms evolve from childhood into adulthood. This longitudinal perspective is uncommon in genetic research and provides a unique opportunity to understand the mutation’s lifelong effects.
The research team emphasizes the need for further investigation to fully understand the mechanisms by which the SPAG9 mutation causes neurological dysfunction. Based on their findings, they are currently looking into potential therapeutic strategies.
About this genetics, neurodevelopment, and neurodegeneration research news
Author: Ma-Li Wong
Source: Genomic Press
Contact: Ma-Li Wong – Genomic Press
Image: The image is credited to Neuroscience News
Original Research: Open access.
” A novel neurodevelopmental-neurodegenerative syndrome that cosegregates with a homozygous SPAG9/JIP4 stop-codon deletion” by Carlos Andrés Villegas-Lanau et al. Genomic Psychiatry
