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. Author manuscript; available in PMC: 2021 Apr 1.
Published in final edited form as: Curr Opin Neurobiol. 2020 Feb 21;61:65–72. doi: 10.1016/j.conb.2020.01.012

Table 1. Retrotransposons reported as dysregulated in brain, cerebrospinal fluid (CSF) or plasma from patients with neurodegenerative disorders.

A comprehensive summary of the retrotransposons identified in human neurodegenerative diseases, including retrotransposon subtype. Font in blue: transposable element-derived transcripts and protein detected in human brain tissue, grey: transposable element-derived transcripts detected in human cerebral spinal fluid, and red: transposable element activity detected in human serum. Refer to references for full details of each study indicated.

Disease Increased Decreased
Transposable Element Subfamily Transposable Element Subfamily
Alzheimer’s Disease (AD) ERV ERV17, ERV9, ERVH48I, ERVK22I, ERVKC4, ERVL [11]
ERVFc_1 [46]
LINE1 L1PA7_5 [11]
L1MB4_5 [46]
LTR LTR12C, LTR14 [11]
LTR77, PRIMA4_LTR [46]
SINE AluYh9, AluYc5, AluSp [46] SINE AluYa5, AluYb8, AluYc1, AluYi6 [10]
Other SVA_B, SVA_C, TIGGER2 [11]
THER2, PB1D11 [46]
Progressive Supranuclear Palsy (PSP) ERV ERV17, ERV9, ERVH48I, ERVK22I, ERVKC4, ERVL, ERVH, ERVP71A_I [11]
LINE1 L1PB2c [11]
LTR LTR12C, LTR14 [11] LTR14A [10]
SINE AluYa5, AluYb8, AluYc1, AluYi6, AluSp, AluY, AluYd8, AluYe5, AluYg6, AluYk11, AluYk12 [10]
Amyotrophic Lateral Sclerosis (ALS) ERV ERVK pol and RT protein [30]
ERV-K gag, pol, env transcripts and env protein [18]
LINE1 L1MA9 [40]
LTR LTR2, LTR70, MER21B, MER51C [40]
SINE AluYk12, AluYa5, FRAM [40]
Other Reverse transcriptase activity [2729]
Frontotemporal lobar degeneration (FTD) LINE1 L1MA9 [40]
LTR LTR2, LTR70, MER21B, MER51C [40]
SINE AluYk12, AluYa5, FRAM [40]
Sporadic Creutzfeldt-Jakob Disease (sCJD) ERV ERV-W, ERV-T, ERV-FRD, ERV- L, ERV-9 [56]