Below is a list of relevant research articles on MBD5 associated neurodevelopmental disorder (MAND) and Complex 3 Mitochondrial Disease, along with brief overviews of each. These articles are listed based on their relevance to MBD5 and CYTB, focusing on clinical phenotypes, molecular mechanisms, and genetic findings related to these conditions. I will update this page when I discover new research as long as I am able to.
These articles focus on epilepsy and seizure disorders associated with MBD5 disruptions, relevant to the seizures experienced by myself and my daughters.
Details seizure patterns in 23 MAND patients, with onset around 2.9 years, including generalized tonic-clonic, focal, and myoclonic seizures. Some experienced status epilepticus. This aligns with our family’s seizures, offering a focus for epilepsy research in MAND.
URL: https://www.neurology.org/doi/10.1212/NXG.0000000000000579
A MBD5 variant in a 12-year-old with drug-resistant seizures, developmental delay, and Rett-like features. Neural progenitor cells showed ciliary defects, suggesting MBD5’s role in ciliary function. Researchers can explore if ciliary dysfunction contributes to our neurological symptoms, including seizures.
Reports an adult with an MBD5 frameshift mutation, presenting epilepsy, intellectual disability, autism, and regression in her 50s, possibly early-onset dementia. This mirrors my late-onset seizures and memory loss, providing a research avenue for epilepsy and regression in MAND.
These articles emphasize MBD5’s role in autism spectrum disorder and related behavioral challenges, which may connect to my family’s neurodevelopmental symptoms.
Explores how MBD5 disruptions (deletions, duplications) lead to intellectual disability, ASD, and behavioral challenges. It highlights MBD5’s role in brain development, offering researchers a chance to investigate its impact on our family’s neurological symptoms.
Compares 2q23.1 deletions and duplications, showing both cause ASD, with deletions leading to more severe symptoms like seizures. Researchers can explore how MBD5 dosage affects our family’s neurodevelopmental profile.
Resequences MBD5 in 562 Japanese patients, finding 16 rare SNVs linked to autism and schizophrenia. This suggests MBD5’s role in a broad neurodevelopmental spectrum, encouraging researchers to explore additional symptoms in our family.
Identifies 468 differentially expressed genes in MAND neural cells, including 20 linked to ASD, affecting pathways like TGFβ. This molecular insight could guide research into our neurological symptoms and potential mitochondrial overlaps.
These articles focus on intellectual disability, developmental delays, and other neurodevelopmental features, which align with my youngest daughter’s in utero symptoms and our shared MBD5 deletion challenges.
Establishes MBD5 as the key gene in 2q23.1 microdeletion syndrome, now recognized as MAND, linking it to intellectual disability, epilepsy, and Autism Spectrum Disorder. This foundational study can help researchers understand my youngest daughters developmental delays and our seizures.
Identifies new de novo MBD5 mutations (deletions, duplications, nonsense) in patients with intellectual disability, language impairment, and autism-like symptoms. Researchers can investigate if rare variants like our non-coding MBD5 deletion contribute to our severe phenotypes.
Investigates MBD5 and SATB2 in neural stem cells, showing MBD5 reduction affects cell proliferation and neural differentiation. This offers a framework for researchers to study how MBD5 impacts brain development in our family.
URL:https://pmc.ncbi.nlm.nih.gov/articles/PMC4471287/Disorders
This article highlights sleep issues in MAND, which may connect my family’s challenges with sleep disturbances, as noted in prior MAND studies.
Finds that MAND disrupts sleep and circadian pathways in 2q23.1 deletion patients, affecting 90% of MAND cases. Common to Smith-Magenis and Fragile X Syndromes. Researchers can study these pathways to address our family’s sleep issues. Both my daughters and I have had lifelong issues of falling and staying asleep. I was diagnosed with Central Sleep Apnea around the same time my seizures started 2 years ago. My youngest has Obstructive Sleep Apnea.
These articles explore how non-coding genes or regions (e.g., ncRNAs, non-coding mtDNA variants, regulatory elements) affect mitochondrial function in disease, with a focus on studies involving the CYTB gene, relevant to my family’s CYTB variant and mitochondrial dysfunction.
This study identifies mtDNA encoded ncRNAs, including lncCyt b, transcribed from the CYTB gene region, which forms RNA-RNA duplexes to stabilize mitochondrial mRNAs or regulate gene expression. They are tissue specific and influence oxidative phosphorylation. Our non-coding mtDNA variants might produce similar ncRNAs that impact CYTB function, offering a research angle for our mitochondrial dysfunction.
This article highlights mitochondrial ncRNAs, both mtDNA encoded and nuclear encoded, that regulate mito gene expression and protein import. The lncCyt b (long non-coding RNA from the CYTB gene) can shuttle to the nucleus, potentially affecting mito-nuclear communication and oxidative phosphorylation, processes disrupted in mitochondrial disease. This is directly relevant to our family’s case, as lncCyt b may influence CYTB expression.
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