#METABOLOMICS WORKBENCH mlhomme_20221213_043543 DATATRACK_ID:3642 STUDY_ID:ST002400 ANALYSIS_ID:AN003910 VERSION 1 CREATED_ON 12-16-2022 #PROJECT PR:PROJECT_TITLE Alcohol dehydrogenase 1B is crucial for adipocyte homeostasis. PR:PROJECT_SUMMARY Background. Alcohol dehydrogenase (ADH1B), encoded by the ADH1B gene, is a PR:PROJECT_SUMMARY cytosolic enzyme mainly known for its role in ethanol catabolism in the liver. A PR:PROJECT_SUMMARY few studies have paved the way to show an equally important role of ADH1B in PR:PROJECT_SUMMARY adipocytes. This study aimed to better identify the cellular mechanisms and PR:PROJECT_SUMMARY signaling pathways involving ADH1B in adipose tissue and to determine if ADH1B PR:PROJECT_SUMMARY variants might contribute to adipose tissue dysfunction. Results. We showed that PR:PROJECT_SUMMARY CRISPR-Cas9-mediated ADH1B knockout (KO) in human adipose stem cells (ASC) PR:PROJECT_SUMMARY abolished adipocyte differentiation and decreased insulin response. This was PR:PROJECT_SUMMARY accompanied by oxidative stress, altered mitochondrial functions, and cellular PR:PROJECT_SUMMARY senescence. Lipidomic analysis revealed that ADH1B deficiency results in a major PR:PROJECT_SUMMARY remodeling of lipid composition in ASC. An ADH1B homozygous loss-of-function PR:PROJECT_SUMMARY variant was also identified in a patient presenting with a lipodystrophic and PR:PROJECT_SUMMARY insulin resistant syndrome associated with major liver dysfunction, leading to PR:PROJECT_SUMMARY early death. Discussion. This translational study underlines the crucial role of PR:PROJECT_SUMMARY ADH1B in adipose tissue. It unveils cellular mechanisms accounting for its key PR:PROJECT_SUMMARY role in adipogenesis, and adipocyte homeostasis. This study also identifies PR:PROJECT_SUMMARY ADH1B as a candidate gene in monogenic forms of lipodystrophic and insulin PR:PROJECT_SUMMARY resistant syndromes. PR:INSTITUTE INSERM PR:LAST_NAME Gautheron PR:FIRST_NAME Jérémie PR:ADDRESS 27 rue Chaligny, 75012 Paris France PR:EMAIL jeremie.gautheron@gmail.com PR:PHONE +33623398373 PR:DOI http://dx.doi.org/10.21228/M8VM64 #STUDY ST:STUDY_TITLE Alcohol dehydrogenase 1B is crucial for adipocyte homeostasis ST:STUDY_SUMMARY Background. Alcohol dehydrogenase (ADH1B), encoded by the ADH1B gene, is a ST:STUDY_SUMMARY cytosolic enzyme mainly known for its role in ethanol catabolism in the liver. A ST:STUDY_SUMMARY few studies have paved the way to show an equally important role of ADH1B in ST:STUDY_SUMMARY adipocytes. This study aimed to better identify the cellular mechanisms and ST:STUDY_SUMMARY signaling pathways involving ADH1B in adipose tissue and to determine if ADH1B ST:STUDY_SUMMARY variants might contribute to adipose tissue dysfunction. Results. We showed that ST:STUDY_SUMMARY CRISPR-Cas9-mediated ADH1B knockout (KO) in human adipose stem cells (ASC) ST:STUDY_SUMMARY abolished adipocyte differentiation and decreased insulin response. This was ST:STUDY_SUMMARY accompanied by oxidative stress, altered mitochondrial functions, and cellular ST:STUDY_SUMMARY senescence. Lipidomic analysis revealed that ADH1B deficiency results in a major ST:STUDY_SUMMARY remodeling of lipid composition in ASC. An ADH1B homozygous loss-of-function ST:STUDY_SUMMARY variant was also identified in a patient presenting with a lipodystrophic and ST:STUDY_SUMMARY insulin resistant syndrome associated with major liver dysfunction, leading to ST:STUDY_SUMMARY early death. Discussion. This translational study underlines the crucial role of ST:STUDY_SUMMARY ADH1B in adipose tissue. It unveils cellular mechanisms accounting for its key ST:STUDY_SUMMARY role in adipogenesis, and adipocyte homeostasis. This study also identifies ST:STUDY_SUMMARY ADH1B as a candidate gene in monogenic forms of lipodystrophic and insulin ST:STUDY_SUMMARY resistant syndromes. ST:INSTITUTE INSERM ST:LAST_NAME Gautheron ST:FIRST_NAME Jérémie ST:ADDRESS 27 rue Chaligny ST:EMAIL jeremie.gautheron@gmail.com ST:PHONE +33623398373 ST:SUBMIT_DATE 2022-12-13 #SUBJECT SU:SUBJECT_TYPE Cultured cells SU:SUBJECT_SPECIES Homo sapiens #SUBJECT_SAMPLE_FACTORS: SUBJECT(optional)[tab]SAMPLE[tab]FACTORS(NAME:VALUE pairs separated by |)[tab]Additional sample data SUBJECT_SAMPLE_FACTORS ADH1B_KO_01_LIP329 ADH1B_KO_01_LIP329 Genotype:ADH1B_KO Batch=1; RAW_FILE_NAME=LIP329_C18_1x_KO_01; RAW_FILE_NAME=LIP329_C18_10x_KO_01; RAW_FILE_NAME=LIP329_long_1x_KO_01; RAW_FILE_NAME=LIP329_short_1x_KO_01; RAW_FILE_NAME=LIP329_short_20x_KO_01 SUBJECT_SAMPLE_FACTORS ADH1B_KO_02_LIP329 ADH1B_KO_02_LIP329 Genotype:ADH1B_KO Batch=1; RAW_FILE_NAME=LIP329_C18_1x_KO_02; RAW_FILE_NAME=LIP329_C18_10x_KO_02; RAW_FILE_NAME=LIP329_long_1x_KO_02; RAW_FILE_NAME=LIP329_short_1x_KO_02; RAW_FILE_NAME=LIP329_short_20x_KO_02 SUBJECT_SAMPLE_FACTORS ADH1B_KO_03_LIP329 ADH1B_KO_03_LIP329 Genotype:ADH1B_KO Batch=1; RAW_FILE_NAME=LIP329_C18_1x_KO_03; RAW_FILE_NAME=LIP329_C18_10x_KO_03; RAW_FILE_NAME=LIP329_long_1x_KO_03; RAW_FILE_NAME=LIP329_short_1x_KO_03; RAW_FILE_NAME=LIP329_short_20x_KO_03 SUBJECT_SAMPLE_FACTORS ADH1B_KO_04_LIP329 ADH1B_KO_04_LIP329 Genotype:ADH1B_KO Batch=1; RAW_FILE_NAME=LIP329_C18_1x_KO_04; RAW_FILE_NAME=LIP329_C18_10x_KO_04; RAW_FILE_NAME=LIP329_long_1x_KO_04; RAW_FILE_NAME=LIP329_short_1x_KO_04; RAW_FILE_NAME=LIP329_short_20x_KO_04 SUBJECT_SAMPLE_FACTORS ADH1B_KO_05_LIP329 ADH1B_KO_05_LIP329 Genotype:ADH1B_KO Batch=1; RAW_FILE_NAME=LIP329_C18_1x_KO_05; RAW_FILE_NAME=LIP329_C18_10x_KO_05; RAW_FILE_NAME=LIP329_long_1x_KO_05; RAW_FILE_NAME=LIP329_short_1x_KO_05; RAW_FILE_NAME=LIP329_short_20x_KO_05 SUBJECT_SAMPLE_FACTORS CTL_01_LIP329 CTL_01_LIP329 Genotype:CTL Batch=1; RAW_FILE_NAME=LIP329_C18_1x_CTL_01; RAW_FILE_NAME=LIP329_C18_10x_CTL_01; RAW_FILE_NAME=LIP329_long_1x_CTL_01; RAW_FILE_NAME=LIP329_short_1x_CTL_01; RAW_FILE_NAME=LIP329_short_20x_CTL_01 SUBJECT_SAMPLE_FACTORS CTL_02_LIP329 CTL_02_LIP329 Genotype:CTL Batch=1; RAW_FILE_NAME=LIP329_C18_1x_CTL_02; RAW_FILE_NAME=LIP329_C18_10x_CTL_02; RAW_FILE_NAME=LIP329_long_1x_CTL_02; RAW_FILE_NAME=LIP329_short_1x_CTL_02; RAW_FILE_NAME=LIP329_short_20x_CTL_02 SUBJECT_SAMPLE_FACTORS CTL_03_LIP329 CTL_03_LIP329 Genotype:CTL Batch=1; RAW_FILE_NAME=LIP329_C18_1x_CTL_03; RAW_FILE_NAME=LIP329_C18_10x_CTL_03; RAW_FILE_NAME=LIP329_long_1x_CTL_03; RAW_FILE_NAME=LIP329_short_1x_CTL_03; RAW_FILE_NAME=LIP329_short_20x_CTL_03 SUBJECT_SAMPLE_FACTORS CTL_04_LIP329 CTL_04_LIP329 Genotype:CTL Batch=1; RAW_FILE_NAME=LIP329_C18_1x_CTL_04; RAW_FILE_NAME=LIP329_C18_10x_CTL_04; RAW_FILE_NAME=LIP329_long_1x_CTL_04; RAW_FILE_NAME=LIP329_short_1x_CTL_04; RAW_FILE_NAME=LIP329_short_20x_CTL_04 SUBJECT_SAMPLE_FACTORS CTL_05_LIP329 CTL_05_LIP329 Genotype:CTL Batch=1; RAW_FILE_NAME=LIP329_C18_1x_CTL_05; RAW_FILE_NAME=LIP329_C18_10x_CTL_05; RAW_FILE_NAME=LIP329_long_1x_CTL_05; RAW_FILE_NAME=LIP329_short_1x_CTL_05; RAW_FILE_NAME=LIP329_short_20x_CTL_05 #COLLECTION CO:COLLECTION_SUMMARY ASC were isolated from surgical samples of subcutaneous abdominal adipose tissue CO:COLLECTION_SUMMARY from a 25-year-old healthy woman with a normal body mass index (BMI). Adipose CO:COLLECTION_SUMMARY tissue was enzymatically digested with collagenase B (0.2%). CO:SAMPLE_TYPE Adipose tissue #TREATMENT TR:TREATMENT_SUMMARY After centrifugation, stromal vascular fraction was filtered, rinsed, plated and TR:TREATMENT_SUMMARY cultured in α-MEM with 10% Fetal Calf Serum (FCS), 1% GlutaMAX (#35050061, TR:TREATMENT_SUMMARY Thermo Fisher Scientific), 1% Penicillin/streptomycin (PS - 10,000 UI/mL), 1% TR:TREATMENT_SUMMARY HEPES and Fibroblast Growth Factor-2 (FGF-2 -145 nmol/L). After 24 h, only ASC TR:TREATMENT_SUMMARY adhered to plastic surfaces, while other cells were removed after culture medium TR:TREATMENT_SUMMARY replacement. ASC were maintained in an undifferentiated state in α-MEM TR:TREATMENT_SUMMARY supplemented with 10 % newborn calf serum (#CA-1151500; Biosera, MI, USA), 1% TR:TREATMENT_SUMMARY GlutaMAX, HEPES and P/S, and FGF-2 (145 nmol/L). Adipocyte differentiation was TR:TREATMENT_SUMMARY induced by treating 2-day post-confluent cultures with high-glucose (25 mmol/L) TR:TREATMENT_SUMMARY DMEM supplemented with 10 % FCS, 1 % PS, 1 µmol/L dexamethasone (#D4902; TR:TREATMENT_SUMMARY Sigma-Aldrich, MI, USA), 1 µM rosiglitazone (#D4902; Sigma-Aldrich), 250 µM TR:TREATMENT_SUMMARY 3-isobutyl-1-methyl xanthine (IBMX) (#I7018; Sigma-Aldrich) and 0.17 µmol/L TR:TREATMENT_SUMMARY insulin (#I0516; Sigma-Aldrich) for ten days. The medium was then replaced with TR:TREATMENT_SUMMARY high-glucose DMEM supplemented with 10% FCS, 1 % PS, 1 µmol/L rosiglitazone and TR:TREATMENT_SUMMARY 0.17 µM insulin, and changed to fresh medium every 2 days until the 20th day. #SAMPLEPREP SP:SAMPLEPREP_SUMMARY Lipid extraction. Lipids were extracted from ASC cells according to a modified SP:SAMPLEPREP_SUMMARY Folch method. Cell pellets were resuspended in 100µl methanol and supplemented SP:SAMPLEPREP_SUMMARY with deuterated internal standards. Lipids were extracted with 1.5 mL chloroform SP:SAMPLEPREP_SUMMARY and 650 µL methanol, sonicated for 15 min. Phase separation was triggered by SP:SAMPLEPREP_SUMMARY addition of 450 µL of ammonium carbonate (250 mM). Lower organic phase was SP:SAMPLEPREP_SUMMARY dried and resuspended in 200 µL of liquid chromatography – mass spectrometry SP:SAMPLEPREP_SUMMARY (LC-MS) solvent. #CHROMATOGRAPHY CH:INSTRUMENT_NAME Shimadzu 20AD CH:COLUMN_NAME Merck Supelco Ascentis Express C18 (150 x 2.1mm,2.7um) CH:COLUMN_TEMPERATURE 43 CH:FLOW_GRADIENT - CH:FLOW_RATE 300ul/min CH:SOLVENT_A 60% acetonitrile/40% water; 0.1% formic acid; 10mM ammonium formate CH:SOLVENT_B 10% acetonitrile/90% isopropanol; 0.1% formic acid; 10mM ammonium formate CH:CHROMATOGRAPHY_TYPE Reversed phase #ANALYSIS AN:ANALYSIS_TYPE MS #MS MS:INSTRUMENT_NAME ABI Sciex 4000 QTrap MS:INSTRUMENT_TYPE QTRAP MS:MS_TYPE ESI MS:MS_COMMENTS MRM acquisition of low abundant neutral lipids: DG This acquisition is referred MS:MS_COMMENTS to as "C18_1x" MS:ION_MODE POSITIVE #MS_METABOLITE_DATA MS_METABOLITE_DATA:UNITS mol% of total lipids MS_METABOLITE_DATA_START Samples ADH1B_KO_01_LIP329 ADH1B_KO_02_LIP329 ADH1B_KO_03_LIP329 ADH1B_KO_04_LIP329 ADH1B_KO_05_LIP329 CTL_01_LIP329 CTL_02_LIP329 CTL_03_LIP329 CTL_04_LIP329 CTL_05_LIP329 Factors Genotype:ADH1B_KO Genotype:ADH1B_KO Genotype:ADH1B_KO Genotype:ADH1B_KO Genotype:ADH1B_KO Genotype:CTL Genotype:CTL Genotype:CTL Genotype:CTL Genotype:CTL CE(16:0) 0.0418 0.0316 0.0274 0.0309 0.0412 0.1083 0.0897 0.1080 0.0701 0.0955 CE(16:1) 0.0281 0.0302 0.0291 0.0223 0.0350 0.0759 0.0666 0.0774 0.0590 0.0583 CE(18:0) 0.0172 0.0147 0.0126 0.0180 0.0180 0.0808 0.0569 0.0685 0.0396 0.0944 CE(18:1) 0.1733 0.1569 0.1580 0.1581 0.2004 0.9055 0.8795 0.8279 0.6789 0.8097 CE(18:2) 0.1375 0.1341 0.1242 0.1086 0.1625 0.4013 0.3628 0.3414 0.2812 0.3714 CE(18:3) 0.0398 0.0378 0.0376 0.0389 0.0426 0.1600 0.1207 0.1178 0.0988 0.1233 CE(20:3) 0.0142 0.0115 0.0115 0.0141 0.0155 0.0442 0.0385 0.0349 0.0271 0.0371 CE(20:4) 0.0232 0.0174 0.0192 0.0293 0.0334 0.0913 0.0618 0.0504 0.0474 0.0636 CE(22:5) 0.0598 0.0512 0.0570 0.0770 0.0793 0.2634 0.2069 0.1600 0.1514 0.1905 CE(22:6) 0.1103 0.0914 0.1105 0.1354 0.1462 0.3102 0.2719 0.2161 0.1895 0.2514 DG(30:1_14:0_16:1) 0.0065 0.0065 0.0051 0.0041 0.0055 0.0042 0.0042 0.0063 0.0047 0.0038 DG(32:0_16:0_16:0) 0.1645 0.1569 0.1751 0.2063 0.2357 0.1766 0.1806 0.1588 0.1423 0.1753 DG(32:1_14:0_18:1) 0.0207 0.0222 0.0212 0.0225 0.0215 0.0197 0.0222 0.0206 0.0219 0.0219 DG(32:2_14:0_18:2) 0.0077 0.0087 0.0073 0.0059 0.0078 0.0035 0.0035 0.0069 0.0040 0.0047 DG(34:0_16:0_18:0) 0.0629 0.0632 0.0535 0.0631 0.0834 0.0495 0.0520 0.0435 0.0377 0.0498 DG(34:1_16:0_18:1) 0.3331 0.3580 0.3775 0.4282 0.3995 0.3934 0.3760 0.3554 0.3332 0.3977 DG(34:2_16:0_18:2) 0.0957 0.1072 0.1107 0.1133 0.1047 0.0595 0.0605 0.1137 0.0527 0.0945 DG(34:2_16:1_18:1) 0.0696 0.0754 0.0786 0.0740 0.0763 0.0725 0.0754 0.0769 0.0750 0.0784 DG(34:3_16:0_18:3) 0.0110 0.0145 0.0131 0.0122 0.0136 0.0061 0.0081 0.0163 0.0055 0.0126 DG(34:3_16:1_18:2) 0.0147 0.0173 0.0188 0.0146 0.0157 0.0090 0.0092 0.0130 0.0097 0.0105 DG(34:4_16:1_18:3) 0.0036 0.0040 0.0029 0.0025 0.0036 0.0014 0.0019 0.0024 0.0017 0.0016 DG(36:0_18:0_18:0) 0.0352 0.0373 0.0107 0.0216 0.0341 0.0062 0.0195 0.0148 0.0082 0.0083 DG(36:1_18:0_18:1) 0.1158 0.1314 0.1454 0.1457 0.1617 0.0999 0.0894 0.0964 0.0792 0.1043 DG(36:2_18:0_18:2) 0.0441 0.0508 0.0552 0.0550 0.0569 0.0332 0.0308 0.1017 0.0281 0.0777 DG(36:2_18:1_18:1) 0.3437 0.3916 0.4077 0.4595 0.4194 0.3806 0.3544 0.3463 0.3310 0.3851 DG(36:3_16:0_20:3) 0.1093 0.1195 0.1244 0.1340 0.1230 0.0358 0.0344 0.0298 0.0282 0.0360 DG(36:3_18:1_18:2) 0.0877 0.0997 0.1015 0.1034 0.0966 0.0517 0.0545 0.0669 0.0454 0.0628 DG(36:4_16:0_20:4) 0.1607 0.1927 0.1882 0.1951 0.1860 0.1172 0.1013 0.1012 0.1027 0.1102 DG(36:4_18:1_18:3) 0.0089 0.0088 0.0086 0.0086 0.0089 0.0044 0.0050 0.0077 0.0045 0.0068 DG(36:4_18:2_18:2) 0.0146 0.0150 0.0152 0.0132 0.0131 0.0050 0.0056 0.0297 0.0039 0.0197 DG(36:5_16:0_20:5) 0.0276 0.0308 0.0333 0.0293 0.0325 0.0161 0.0174 0.0168 0.0163 0.0156 DG(36:5_16:1_20:4) 0.0273 0.0320 0.0270 0.0212 0.0308 0.0188 0.0208 0.0197 0.0205 0.0209 DG(36:5_18:2_18:3) 0.0027 0.0027 0.0022 0.0031 0.0009 0.0015 0.0050 0.0028 DG(38:3_18:0_20:3) 0.0580 0.0698 0.0746 0.0704 0.0733 0.0443 0.0423 0.0409 0.0404 0.0484 DG(38:3_18:1_20:2) 0.0231 0.0280 0.0285 0.0267 0.0281 0.0134 0.0128 0.0123 0.0116 0.0132 DG(38:4_18:0_20:4) 0.2429 0.2815 0.3048 0.3353 0.3105 0.3276 0.2889 0.2694 0.2888 0.3432 DG(38:4_18:1_20:3) 0.0966 0.1053 0.1111 0.1253 0.1071 0.0348 0.0317 0.0269 0.0269 0.0322 DG(38:5_16:0_22:5) 0.1494 0.1658 0.1771 0.1575 0.1664 0.0627 0.0646 0.0593 0.0601 0.0621 DG(38:5_18:1_20:4) 0.1347 0.1572 0.1564 0.1598 0.1505 0.1179 0.1089 0.1093 0.1137 0.1191 DG(38:6_16:0_22:6) 0.1187 0.1400 0.1385 0.1394 0.1359 0.0886 0.0842 0.0782 0.0798 0.0843 DG(38:6_18:2_20:4) 0.0199 0.0239 0.0190 0.0171 0.0204 0.0073 0.0069 0.0073 0.0069 0.0069 DG(40:7_18:1_22:6) 0.0959 0.1072 0.1091 0.1097 0.1103 0.0708 0.0676 0.0666 0.0636 0.0673 FC 20.2911 21.2272 21.9566 20.0937 22.5802 21.4107 18.6599 19.8820 25.5547 18.9283 MS_METABOLITE_DATA_END #METABOLITES METABOLITES_START metabolite_name pubchem_id inchi_key kegg_id other_id other_id_type ri ri_type moverz_quant CE(16:0) 12.4 CE(16:1) 11.6 CE(18:0) 13.2 CE(18:1) 12.4 CE(18:2) 11.7 CE(18:3) 11 CE(20:3) 11.8 CE(20:4) 11.3 CE(22:5) 11.3 CE(22:6) 10.8 DG(30:1_14:0_16:1) 3.92 DG(32:0_16:0_16:0) 5.61 DG(32:1_14:0_18:1) 4.7 DG(32:2_14:0_18:2) 4.01 DG(34:0_16:0_18:0) 6.55 DG(34:1_16:0_18:1) 5.63 DG(34:2_16:0_18:2) 4.9 DG(34:2_16:1_18:1) 4.79 DG(34:3_16:0_18:3) 4.27 DG(34:3_16:1_18:2) 4.16 DG(34:4_16:1_18:3) 3.7 DG(36:0_18:0_18:0) 7.49 DG(36:1_18:0_18:1) 6.58 DG(36:2_18:0_18:2) 5.84 DG(36:2_18:1_18:1) 5.65 DG(36:3_16:0_20:3) 5.07 DG(36:3_18:1_18:2) 4.92 DG(36:4_16:0_20:4) 4.67 DG(36:4_18:1_18:3) 4.25 DG(36:4_18:2_18:2) 4.2 DG(36:5_16:0_20:5) 4.09 DG(36:5_16:1_20:4) 3.91 DG(36:5_18:2_18:3) 3.64 DG(38:3_18:0_20:3) 6.03 DG(38:3_18:1_20:2) 5.77 DG(38:4_18:0_20:4) 5.59 DG(38:4_18:1_20:3) 5.14 DG(38:5_16:0_22:5) 4.67 DG(38:5_18:1_20:4) 4.69 DG(38:6_16:0_22:6) 4.38 DG(38:6_18:2_20:4) 3.99 DG(40:7_18:1_22:6) 4.38 FC 3.72 METABOLITES_END #END