亨廷顿氏病PCR芯片Huntington's Disease

亨廷顿氏病PCR芯片可检测直接或间接与亨廷顿氏病（HD）相关的84个关键基因的表达。HD，是由于亨廷顿（HTT）基因的CAG重复片段扩增所造成的一种常染色体显性遗传性疾病，患者表现为进行性神经功能障碍，并最终导致死亡。HTT与多种转录因子（如REST和SP1）发生相互作用，从而影响下游靶基因的表达；当HTT基因发生突变，会导致抗凋亡功能的丧失。例如，在细胞质中HTT阻断REST，而突变的HTT功能减弱，允许REST进入细胞核并抑制BDNF基因的表达。由于BDNF对纹状体神经元的存活是至关重要的，因此HTT的突变会调导致神经元的死亡。通过实时定量PCR的方法，研究者即能够利用该芯片简单可靠地同时检测廷顿氏病相关的基因表达。
Huntingtin Cofactors: CLTC, CREBBP, DCTN1, DLG4 (PSD95), EGFR, GRB2, HAP1, HDAC2, HIP1, MAP3K10, NCOR1, PACSIN1, PRPF40A (FNBP3), PTPN11, RCOR1, REST, SIN3A, SP1, SYMPK, TBP, TP53. Transcription Factor Targets: SP1: AKT1, APOE, AQP1, ARFIP2, BDNF, C3, CASP8 (FLICE), CD44, CLTC, CREBBP, DLG4 (PSD95), FGF12, GJA1, GJB6, GPX1, GRB2, GRIN2A, HAP1, HDAC1, HOMER1, HPCA, HTT, KCNC3, LPL, MAP3K10, PACSIN1, PRKCB, RAB6A, REST, RILP, RXRB, SGK1, SIN3A, SOD1, SOX2, SP1, SYMPK, SYN1, TGM2, TOLLIP, TP53, TUBB. REST: BDNF, CALB1, DLG4 (PSD95), EEF1A2, ELMO1, FGF12, GABRD, GRIN2A, KCNAB2, KCNC3, NEFL, RPH3A, RXRB, SNAP25, SYN1, TOLLIP, TUBB. Cytoskeleton: AKT1, CASP8 (FLICE), DCTN1, DLG4 (PSD95), ELMO1, GRIN2A, HAP1, HIP1, HOMER1, IFT57, ITPR1, NCOR1, NEFL, SYMPK, TUBB. Cytoskeleton Organization: APOE, ARFIP2, ELMO1, NCOR1, NEFL, PACSIN1, TAC1, TUBB. Ion Transport: AKT1, AQP1, ATP2B2, GABRD, GRIN2A, HOMER1, HTT, ITPR1, KCNAB1, KCNAB2, KCNC3, PPP3CA, SGK1. Regulation of Synaptic Transmission: APOE, BDNF, CALB1, EGFR, GNAQ, GRIN2A, GRIN2B, HTT, PPP3CA, TAC1. Postsynaptic Density (PSD): DLG4 (PSD95), GRIN2A, HOMER1, ITPR1. Synapse: DLG4 (PSD95), GABRD, GRIN2A, GRIN2B, HOMER1, ITPR1, RPH3A, SNAP25, SYN1. Neurotransmitter Receptors: CNR1, GABRD, GRIN2A, GRIN2B, GRM5, NTRK2. Dysregulated Processes: Apoptosis: AKT1, APOE, BAX, BDNF, CASP3, CASP8 (FLICE), CD44, CREB1, EEF1A2, EGFR, ELMO1, GJB6, GRIN2A, HIP1, HTT, IFT57, IGF1, MAP3K10, NEFL, NGEF, SGK1, SLC25A4, SOX2, TBP, TP53, TUBB, ZBTB16. Endocytosis: C3, CLTC, HIP1, PACSIN1. Oxidation / Reduction: APOE, BBOX1, EGFR, GPX1, KCNAB1, KCNAB2, PLOD2, PPARGC1A, SOD1. Calcium Signaling / Homeostasis: APOE, ATP2B2, GNAQ, GRIN2A, GRIN2B, HOMER1, ITPR1, PLCB1, PPP3CA, TAC1, TGM2.Others: PGK1, RGS4, SLC14A1.