GRCh38.p13 chr 22 NC_000022.11:g.43162920 A (reference allele) > G (alt allele), located in exon 4 of the TSPO gene
- Protein level: amino acid substitution (Ala147Thr) ,
T [ACG] > A [GCG] Coding Sequence Variant, Missense Variant
Frequency: A=20-30%, G=70-80%
(Mizrahi, 2012 #2154) The polymorphism rs6971 was genotyped variously using a TaqMan assay on demand C_2512465_20 (Applied Biosystems, Foster City, CA, USA). The allele T147 was linked to Vic and the allele A147 was linked to FAM. Polymerase chain reaction reactions were performed in a 96-well microtiter-plate on a GeneAmp PCR System 9700 (Applied Biosystems). After PCR amplification, end point plate read and allele calling was performed using an ABI 7900 HT (Applied Biosystems) and the corresponding SDS software (v2.2.2, Applied Biosystems).
| DNA | 아래 순서 의문 | Protein (POSITION 147) | express ... | |
|---|---|---|---|---|
| A/A | Adenine/adenine | Ala/Ala | HAB | express a single binding site for TSPO with either high affinity |
| A/G | Adenine/guanine | Ala/Thr | MAB | express approximately equal numbers of the high- and low-affinity binding sites |
| G/G | Guanine/guanine | Thr/Thr | LAB | express a single binding site for TSPO with either low affinity |
| Category | SNP | TSPO Binding Impact | Proportion in population | |||
|---|---|---|---|---|---|---|
| European | Asian | Latin American | African | |||
| HAB (high affinity binder) | A/A | express a single binding site for TSPO with either high affinity | 9.8% | 0.1% | 2.5% | 3.6% |
| MAB (mixed affinity binder) | A/G | express approximately equal numbers of the high- and low-affinity binding sites | 43.0% | 7.3% | 26.6% | 30.7% |
| LAB (low affinity binder) | G/G | express a single binding site for TSPO with either low affinity | 47.2% | 92.5% | 70.9% | 65.7% |
(Lee, 2022 #2155) Exon 4 of the TSPO gene as well as exon/intron junctions were amplified by PCR and sequenced using the Sanger method. mouse TSPO is 96% homologous to the rat TSPO
HapMap database, in American and Europe, the percentage of HABs was 69.2% and 45.7%; In
| Takeda ID, Genotype, Allele | Dx | |
|---|---|---|
| 2019-116 1/1 G/G | LAB | HC |
| 2019-103 0/1 A/G | MAB | HC |
| 2019-125 1/1 G/G | LAB | HC |
| 2019-054 0/1 A/G | MAB | HC |
| 2019-129 0/1 A/G | MAB | HC |
| 2019-061 1/1 G/G | LAB | HC |
| 2009-002 0/1 A/G | MAB | PD |
| 2009-045 1/1 G/G | LAB | PD |
| 2011-047 0/1 A/G | MAB | PD |
| 2012-041 0/1 A/G | MAB | PD |
| 2012-103 1/1 G/G | LAB | PD |
| 2014-030 0/0 A/A | HAB | PD |
| 2016-029 0/1 A/G | MAB | PD |
| 2016-124 1/1 G/G | LAB | PD |
| 2016-098 0/1 A/G | MAB | PD |
| 2016-119 0/1 A/G | MAB | PD |
| 2018-022 1/1 G/G | LAB | PD |
| 2019-067 1/1 G/G | LAB | PD |
| 2019-094 0/1 A/G | MAB | PD |
| Case ID (NBB ID) | Diagnosis | TSPO polymorphism |
|---|---|---|
| 2019-116 | HC | LAB |
| 2019-103 | HC | MAB |
| 2019-125 | HC | LAB |
| 2019-054 | HC | MAB |
| 2019-129 | HC | MAB |
| 2019-061 | HC | LAB |
| 2009-002 | PD | MAB |
| 2009-045 | PD | LAB |
| 2011-047 | PD | MAB |
| 2012-041 | PD | MAB |
| 2012-103 | PD | LAB |
| 2014-030 | PD | HAB |
| 2016-029 | PD | MAB |
| 2016-124 | PD | LAB |
| 2016-098 | PD | MAB |
| 2016-119 | PD | MAB |
| 2018-022 | PD | LAB |
| 2019-067 | PD | LAB |
| 2019-094 | PD | MAB |
| LAB | 1 |
| MAB | 10 |
| HAB | 8 |
Structure
- Seltzer: (Radiologist) runs the scans
- Mathew Havrda: (Lab guy) handles IRB processes, blood sample prep, and blood tests
|
- Correlation between brain NLRP3 and plasma : havrda가 할 수도 있는 듯. Postmortem brain 있다. Using WB, His MSD, Quanterix
Once I have any indication of a clinical collaborator → I can submit an IRB modification. → At that point I'll just need some tracer details/protocols etc | |
| hen urolo ): ntifies ents his cal tice |
[CDA] certain discussions and/or evaluations in connection with preclinical, translational, clinical and other matters relating to PD, certain information disclosed by INSTITUTION to TAKEDA and/or its Affiliates, including but not limited to, information relating to organizing, research, funding and other activities relating to Parkinson's Disease and related neurological disorders. information relating to Takeda's business and development strategy regarding current and planned therapeutic agents for the treatment of PD and related neurological disorders including any undisclosed chemical, preclinical, biomarker and clinical information relating to such agents and strategies for evaluation. Neuroimaging study for neuroinflammation in Parkinson's disease His institution's research activities and information with regard to patients, and Takeda's undisclosed preclinical and biomarker strategy |
| 0721 Matt, Marc, hen |
- Tracer: i) company for synthesis → transport to Dartmouth ii) no cyclotrone?) so no 11C, but 18F (or longer) iii) human tissue data (off target check?) - Population: all comer vs selection (→ adaptive), should be all comer. - Timeline: if 1-2 scan/w → 6 month for recruitment - Assay: where, in Tbos? - BM: ASC spec? Gasdermin D? - Protocol: Matt to write |
| 092 |
-2 hr from boston to dartmouth, Dana faber has capability , Metabolite analysis: Arterial sampling, gamma counter, HPLC, radio detector ... can we ship from arterial sampling to Tsho? Same view between brain and heart, |
Uncertain Spans
| location | transcription | uncertainty |
|---|---|---|
| Takeda ID list, “2014-030 0/0 A/A” | second column genotype label | Genotype label appears as “0/0 A/A” → HAB; preserved as legible. |
| Last left-cell label “092” | column-edge token | The leftmost cell label reads as “092” but the prefix may be cut off. |
| Subject summary mini-table | ”AB 1 / AB 10 / B 8” sequence | The leftmost column letters are partly cropped; preserved as “LAB 1 / MAB 10 / HAB 8” by inference from neighbouring tables. |