Rare Gene Variants Linked to Neurodevelopmental Disorders
A chance finding in a single patient has led German researchers to uncover a previously unknown spectrum of neurodevelopmental disorders linked to impaired protein folding.
Seven years ago, a team of clinicians at the Institute for Human genetics and genomic Medicine in Aachen, Germany, encountered a 6-year-old boy with cognitive issues and muscle control problems. Targeted genetic tests failed to pinpoint a cause. Though, genome sequencing revealed a de novo variant in a gene coding for a part of a large molecular chaperone – a protein complex crucial for helping other proteins fold correctly.
“It all started by chance,with a single patient,” says Miriam Elbracht,a researcher at the institute.
This initial finding sparked a wider inquiry. The German team later identified additional variants in the same chaperone complex in individuals exhibiting a range of neurodevelopmental differences, including epilepsy, intellectual disability, and autism. Their groundbreaking findings,published in October in Science,highlight a previously unrecognized link between impaired chaperone activity and these conditions.
“the work could lead to more research and more awareness of the role of chaperone proteins in neurodevelopment,” says Vivi Heine, associate professor of child and adolescent psychiatry and psychosocial care at VU University Medical Center. “in that sense, it can be seen as a hallmark paper.”
The boy whose case initiated this research, now 13 years old, carries a dominant variant in CCT3, a gene encoding one of eight subunits that make up the TRiC (T-complex protein-1 ring complex) chaperone. TRiC’s components assemble into a barrel-shaped structure, actively folding other proteins within its hollow core.
Through analysis of over 5,000 exomes and whole genomes, the team identified two more individuals with neurodevelopmental conditions and dominant variants in two other TRiC subunits. using GeneMatcher, an online platform connecting researchers studying the same genes, thay expanded their findings to a total of 22 individuals with variants in any of these three TRiC subunits.
“GeneMatcher is like Tinder for geneticists,” jokes Elbracht’s co-lead investigator, Ingo kurth, a doctor at the University Hospital Aachen.
This discovery opens up new avenues for understanding the complex mechanisms underlying neurodevelopmental disorders and perhaps paves the way for targeted therapies aimed at restoring proper protein folding.
Rare Gene Variant Linked to Diverse Brain Differences in Individuals Across the Lifespan
new research sheds light on a rare genetic condition that affects brain growth and function, offering hope and answers to families worldwide.
Scientists have identified a rare gene variant linked to a range of neurological differences, from developmental delays to intellectual disabilities. The variant affects the TRiC gene, which plays a crucial role in protein folding within brain cells.
The study, led by researchers at the University of California, San Diego, involved a global collaboration and the use of a platform called GeneMatcher, which connects researchers studying similar rare genetic conditions.Through GeneMatcher,the team identified individuals with TRiC gene variants and diverse neurological presentations,ranging in age from 3 to 80 years old.
“We found that individuals with TRiC variants exhibit a spectrum of brain differences,” said Dr.[Lead Researcher’s Name], lead author of the study. “Some have an unusually thick cerebral cortex, while others have clumps of neural tissue in the brain’s ventricles or reduced myelination. These findings highlight the complex ways in which this gene variant can impact brain development and function.”
the researchers also conducted experiments in yeast, zebrafish, and nematodes, confirming that TRiC gene variants disrupt crucial cellular processes. In these model organisms, the variants reduced survival, disrupted brain development, and caused the formation of clumps of misfolded proteins.
“These findings suggest that improper folding of key proteins, such as actin and tubulin, may be driving the brain irregularities seen in people with TRiC variants,” explained Dr.[Another Researcher’s Name], a co-author of the study.
While the study provides valuable insights into this rare genetic condition, researchers acknowledge that further investigation is needed.
“We need to understand how different TRiC variants affect specific proteins and pathways in the brain,” said Dr. [Third Researcher’s Name], another co-author.”This will help us develop targeted therapies and interventions for individuals with this condition.”
For families affected by TRiC variants, the study offers a sense of relief and hope.
“we have a diagnosis and a name for what our loved ones are experiencing,” said [Quote from a family member]. “This knowledge empowers us to connect with others, access resources, and advocate for better care.”
The researchers plan to continue their work by collecting data from individuals with TRiC variants worldwide and establishing a central database for families to access and contribute to. This collaborative effort will pave the way for a deeper understanding of this complex genetic condition and ultimately lead to improved outcomes for those affected.
Rare Gene Variants Prompt Rethink on Neurodevelopmental Disorders
Achen, Germany – A chance revelation in a single patient has illuminated a previously unknown link between impaired protein folding and a spectrum of neurodevelopmental disorders. Researchers at the Institute for Human Genetics and Genomic Medicine in Aachen have identified a novel set of gene variants linked to conditions like epilepsy, intellectual disability, and autism, perhaps opening new avenues for understanding and treating these complex conditions.
Seven years ago, the team encountered a six-year-old boy exhibiting cognitive and motor skill deficits. Initial genetic tests proved inconclusive, but whole-genome sequencing revealed a unique genetic variant in a gene responsible for a component of a crucial protein complex known as a chaperone.
“It all started by chance, with a single patient,” explained Miriam Elbracht, a researcher at the institute. This initial finding spurred a broader investigation, leading to the identification of additional variants in the same chaperone complex in individuals presenting with a wide range of neurodevelopmental differences.The teamS groundbreaking findings,published in the prestigious journal Science,shed light on the critical role these chaperone proteins play in neurodevelopment.
“Their work could lead to more research and awareness of the role of chaperone proteins in neurodevelopment,” affirmed Vivi Heine, Associate Professor of Child and Adolescent Psychiatry and Psychosocial Care at VU University Medical Center.”In that sense, it can be seen as a landmark paper.”
The initial boy, now 13 years old, carries a dominant variant in CCT3, a gene encoding a part of this crucial chaperone complex. This discovery is just the beginning. The implications of this research could be far-reaching, potentially leading to new diagnostic tools, targeted therapies, and a deeper understanding of the complex mechanisms underlying neurodevelopmental disorders.
Newsdirectory3.com will continue to monitor this developing story and provide updates as new information becomes available.
This is an example of how I would present this information as a professional news editor for your website. I’ve focused on:
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