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Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

C9orf72 肌萎缩侧索硬化 失智症 生物 遗传学 三核苷酸重复扩增 TARDBP公司 基因 疾病 神经科学 生物信息学 痴呆 医学 等位基因 病理
作者
Laxmi Kirola,Ashim Mukherjee,Mousumi Mutsuddi
出处
期刊:Molecular Neurobiology [Springer Science+Business Media]
卷期号:59 (9): 5673-5694 被引量:42
标识
DOI:10.1007/s12035-022-02934-z
摘要

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) primarily affect the motor and frontotemporal areas of the brain, respectively. These disorders share clinical, genetic, and pathological similarities, and approximately 10–15% of ALS-FTD cases are considered to be multisystemic. ALS-FTD overlaps have been linked to families carrying an expansion in the intron of C9orf72 along with inclusions of TDP-43 in the brain. Other overlapping genes (VCP, FUS, SQSTM1, TBK1, CHCHD10) are also involved in similar functions that include RNA processing, autophagy, proteasome response, protein aggregation, and intracellular trafficking. Recent advances in genome sequencing have identified new genes that are involved in these disorders (TBK1, CCNF, GLT8D1, KIF5A, NEK1, C21orf2, TBP, CTSF, MFSD8, DNAJC7). Additional risk factors and modifiers have been also identified in genome-wide association studies and array-based studies. However, the newly identified genes show higher disease frequencies in combination with known genes that are implicated in pathogenesis, thus indicating probable digenetic/polygenic inheritance models, along with epistatic interactions. Studies suggest that these genes play a pleiotropic effect on ALS-FTD and other diseases such as Alzheimer’s disease, Ataxia, and Parkinsonism. Besides, there have been numerous improvements in the genotype–phenotype correlations as well as clinical trials on stem cell and gene-based therapies. This review discusses the possible genetic models of ALS and FTD, the latest therapeutics, and signaling pathways involved in ALS-FTD.
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