Contribution of somatic mutation in human diseases

Somatic mutation, a previously overlooked genetic factor, can disrupt crucial gene function in carrier cells and contribute to the unexplained risk of human diseases. If a somatic mutation occurs in the germ cell lineage, it may be transmitted to the offspring, causing a de novo mutation. Our prior research discovered that somatic mutation plays a critical role in various diseases, including autism, Alzheimer's disease, and vascular malformation. We are currently deciphering the pathogenic contribution and mechanism of somatic mutations in many diseases, which will shed new light on their prevention, diagnosis, and treatment.

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Huang AY*, Zhou Z*, Talukdar M*, Miller MB, Chhouk B, Enyenihi L, Rosen I, Stronge E, Zhao B, Kim D, Choi J, Khoshkhoo S, Kim J, Ganz J, Travaglini KJ, Gabitto M, Hodge RD, Kaplan E, Lein E, De Jager P, Bennett DA, Lee EA#, Walsh CA#. bioRxiv. 2024

Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations

Zhou Z*, Kim J*, Huang AY*, Nolan M, Park J, Doan R, Shin T, Miller MB, Chhouk B, Morillo K, Yeh RC, Kenny C, Neil JE, Lee C-Z, Ohkubo T, Ravits J, Ansorge O, Ostrow LW, Lagier-Tourenne C#, Lee EA#, Walsh CA#. bioRxiv. 2023

Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology

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Somatic genomic changes in single Alzheimer’s disease neurons

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MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Diseases and Asymptomatic Human Individuals

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Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals

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Couto JA*, Huang AY*, Konczyk DJ, Goss JA, Fishman SJ, Mulliken, JB, Warman ML, Greene AK#. Am J Hum Genet, 2017

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Dou Y*, Yang X, Li Z, Wang S, Zhang Z, Ye AY, Yan L, Yang C, Wu Q, Li J, Zhao B, Huang AY#, Wei L#. Hum Mutat. 2017