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Gene Review

ACD  -  adrenocortical dysplasia homolog (mouse)

Homo sapiens

Synonyms: Adrenocortical dysplasia protein homolog, PIP1, POT1 and TIN2-interacting protein, PTOP, Pip1, ...
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Disease relevance of ACD

  • CONCLUSIONS--This study demonstrates that ACD CPR appears to be more effective than standard CPR in a well-defined subset of victims of out-of-hospital cardiac arrest during the critical early phases of resuscitation [1].
  • Blood anticoagulated with ACD (decrease 19.5% +/- 6%, range 6%-56%), heparinized plasma (N = 10, decrease 15% +/- 3%, range 3%-29%) and platelet-rich plasma exposed to the filters failed to produce neutropenia [2].
  • During the last few years the measurement of serum-soluble transferrin receptor (sTfR) has been introduced as a tool to detect iron deficiency and as an analyte to differentiate between anemia caused by iron deficiency (IDA) and that caused by chronic disease (ACD) [3].
  • A new factor VII concentrate, made from ACD plasma by a process involving successive absorptions of cryoprecipitate supernatant on DEAE Sephadex and of the resulting supernatant on A1(OH)3, was administered to 10 patients with severe factor VII deficiency [4].
  • Kaplan-Meier curves showed early separation between patients with increased vs. reference concentrations before 30 days for ACD, MI or ACD, and MI or cardiac death [5].

Psychiatry related information on ACD


High impact information on ACD

  • Granular dystrophy Groenouw type I (CDGG1), Reis-Bücklers (CDRB), lattice type I (CDL1) and Avellino (ACD) are four 5q31-linked human autosomal dominant corneal dystrophies [8].
  • PTOP interacts with POT1 and regulates its localization to telomeres [9].
  • Southern and in situ hybridization showed that sequences with homology to sequences within pAs120 were dispersed throughout the genome of diploid (A and C genomes), tetraploid (AC genomes), and hexaploid (ACD genomes) Avena species [10].
  • CONCLUSIONS: Cilostazol improved walking distances, significantly increasing ICD and ACD [11].
  • Comparisons between groups were based on logarithms of ratios of ICD and ACD changes from baseline using ANOVA test at last treatment visit [11].

Chemical compound and disease context of ACD

  • STUDY DESIGN AND METHODS: DNA was extracted from fresh or stored (4 degrees C for 1-6 days) normal donor serum or plasma samples (ACD; EDTA) by using reagents from an HIV assay kit [12].
  • An increased expression of IFNgamma was detected in bacampicillin treated PBMC cultures from the ACD but not from rhinitis patients [13].
  • Despite experimental evidence that myocardial depression resulting from rapid transfusion of ACD blood (citrate binds ionic calcium) is avoidable by simultaneous calcium administration, most hypovolemic patients receive calcium either after transfusion or not at all [14].
  • Citrate-based anticoagulants, notably sodium citrate and ACD formula A, have been indicated as the major cause of hypocalcemic toxicity, but colloid replacement fluids containing human serum albumin are also at fault [15].
  • Edema formation was investigated using MRI with 'ACD mapping', while NMDA receptor activation was simultaneously detected in the same animals, using radio labeled 125IodoMK-801, which binds only in activated and open NMDA channels [16].

Biological context of ACD

  • Furthermore, expression of the respective interaction domains on PTOP and POT1 alone extended telomere length in human cells [9].
  • Six autosomal dominant corneal dystrophies are caused by mutations in the TGFBI (BIGH3) gene on chromosome 5q31: three types of lattice corneal dystrophy (LCD), including type I and type IIIA, granular, Avellino (ACD), and Reis-Bucklers [17].
  • We conclude that apoptosis offers a mainstream approach for cancer gene therapy since ACD is highly inducible and only limited gains in malignant cell apoptosis may displace tumors from growth to regression [18].
  • Accordingly, for rapid screening for carriers of ACD, we recommend use of leucocyte or plasma alpha/beta ratios which should detect greater than 85% of heterozygotes [19].
  • This work was designed to investigate the kinetics of both allergic and irritant CD (ACD and ICD) in vivo [20].

Anatomical context of ACD

  • The total calcium content of cold-stored erythrocytes in ACD was not significantly different from that of fresh erythrocytes [21].
  • 91% +/- 2% of the neutrophils adhered to the fibers using heparinized blood as compared to 21% +/- 5% using ACD (p less than 0.001) [2].
  • The results suggest that severe chronic alcoholism damages neurons containing GA-BA-A/BDZ receptors in the superior medial aspects of the frontal lobes, and in patients with clinical signs of ACD, neurons containing GABA-A/BDZ receptors in the superior cerebellar vermis [22].
  • Evaluation of patients, after randomization, included the ICD and ACD, ABI, popliteal artery flow with duplex and QOL* at baseline*, 1/12, 2/12, 3/12, 4/12, 5/12* and 17/12 [23].
  • In ICD, maximal staining of endothelial cells occurred earlier than in ACD [24].

Associations of ACD with chemical compounds

  • All detected mutations occurred at the CpG dinucleotide of two arginine codons: R555W in one CDGG1, R555Q in one CDRB, R124C in two CDL1 and R124H in two ACD families [8].
  • The Ca2+ leakiness developed gradually after day 2 and reached a maximum by day 7 of cold storage in ACD, CPD, CPD-adenine, or heparin anticoagulants [21].
  • Positron emission tomography was used with [11C]flumazenil (FMZ) and [18F]fluorodeoxyglucose to study GABA type A/benzodiazepine (GA-BA-A/BDZ) receptors and cerebral metabolic rates for glucose (1CMRg1c) in 17 male patients with severe chronic alcoholism (ALC), 8 with (ACD) and 9 without alcoholic cerebellar degeneration (non-ACD) [22].
  • Although the ghosts from long-stored ACD blood (10 weeks) were less sensitive to 10(-7)-10(-6) M Ca2+, the ghosts obtained from this blood after it had been preincubated with adenine and inosine for 3 h at 37 degrees C were highly sensitive to Ca2+ [25].
  • The labeling efficiency was found to be dependent on a) the time and temperature of incubation, b) the platelet concentration, c) the concentration of citrate ions (in ACD anticoagulant), and d) the concentration of 8-hydroxyquinoline in the suspending medium [26].

Other interactions of ACD

  • We describe three separate mutations in TGFBI: one novel, one initially described as causing ACD, and one previously described [17].
  • In conclusion, almost 50% of patients with RA have anemia and ACD is the most frequent [27].
  • There was a negative relationship between Hb and serum erythropoietin in ACD (r = -0.42, p = 0.005) [27].
  • Blood collected in ACD was supplemented with PIGP solution or PIGPA solution [28].
  • At present the induction and elicitation of an ACD with potent contact allergens such as DCP appear to be the most effective, but still not definitively curative, approach in treating extensive forms of AA [29].

Analytical, diagnostic and therapeutic context of ACD

  • Based on this study, a larger study should be performed to evaluate the potential long-term benefits of ACD CPR [1].
  • OBJECTIVE--Active compression-decompression (ACD) cardiopulmonary resuscitation (CPR) appears to improve ventilation and coronary perfusion when compared with standard CPR [1].
  • OBJECTIVES: This study was designed to examine whether high-sensitivity C-reactive protein (CRP) and electrocardiographic (ECG) ST-segment depression (STD) have additive utility for predicting cardiovascular disease (CVD) death and all-cause death (ACD) [30].
  • Groups matched for age, sex, initial [ICD] and absolute [ACD] claudication distances, pressure indices [ABI], popliteal artery flow, and QOL with the short-form 36 Health Survey Questionnaire (SF-36) [23].
  • Another fruitful direction is the association of apoptosis-inducing gene transfer with radio- and chemotherapy, which are also inducers of ACD [18].


  1. Evaluation of active compression-decompression CPR in victims of out-of-hospital cardiac arrest. Lurie, K.G., Shultz, J.J., Callaham, M.L., Schwab, T.M., Gisch, T., Rector, T., Frascone, R.J., Long, L. JAMA (1994) [Pubmed]
  2. Transient neutropenia induced by transfusion of blood exposed to nylon fiber filters. Schiffer, C.A., Aisner, J., Wiernik, P.H. Blood (1975) [Pubmed]
  3. Evaluation of new immunoenzymometric assay for measuring soluble transferrin receptor to detect iron deficiency in anemic patients. Suominen, P., Punnonen, K., Rajamäki, A., Irjala, K. Clin. Chem. (1997) [Pubmed]
  4. Treatment of congenital factor VII deficiency with a new concentrate. Mariani, G., Mannucci, P.M., Mazzucconi, M.G., Capitanio, A. Thromb. Haemost. (1978) [Pubmed]
  5. Point-of-care i-STAT cardiac troponin I for assessment of patients with symptoms suggestive of acute coronary syndrome. Apple, F.S., Ler, R., Chung, A.Y., Berger, M.J., Murakami, M.M. Clin. Chem. (2006) [Pubmed]
  6. Computational approaches to the prediction of blood-brain barrier permeability: A comparative analysis of central nervous system drugs versus secretase inhibitors for Alzheimer's disease. Rishton, G.M., LaBonte, K., Williams, A.J., Kassam, K., Kolovanov, E. Current opinion in drug discovery & development. (2006) [Pubmed]
  7. Evidence for developmentally based diagnoses of oppositional defiant disorder and conduct disorder. Loeber, R., Keenan, K., Lahey, B.B., Green, S.M., Thomas, C. Journal of abnormal child psychology. (1993) [Pubmed]
  8. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Munier, F.L., Korvatska, E., Djemaï, A., Le Paslier, D., Zografos, L., Pescia, G., Schorderet, D.F. Nat. Genet. (1997) [Pubmed]
  9. PTOP interacts with POT1 and regulates its localization to telomeres. Liu, D., Safari, A., O'Connor, M.S., Chan, D.W., Laegeler, A., Qin, J., Songyang, Z. Nat. Cell Biol. (2004) [Pubmed]
  10. Discrimination of the closely related A and D genomes of the hexaploid oat Avena sativa L. Linares, C., Ferrer, E., Fominaya, A. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  11. Cilostazol has beneficial effects in treatment of intermittent claudication: results from a multicenter, randomized, prospective, double-blind trial. Dawson, D.L., Cutler, B.S., Meissner, M.H., Strandness, D.E. Circulation (1998) [Pubmed]
  12. Quantitation of genomic DNA in plasma and serum samples: higher concentrations of genomic DNA found in serum than in plasma. Lee, T.H., Montalvo, L., Chrebtow, V., Busch, M.P. Transfusion (2001) [Pubmed]
  13. Characterization of primary recall in vitro lymphocyte responses to bacampicillin in allergic subjects. Cederbrant, K., Marcusson-Stâhl, M., Hultman, P. Clin. Exp. Allergy (2000) [Pubmed]
  14. Acute clinical hypocalcemic myocardial depression during rapid blood transfusion and postoperative hemodialysis: a preventable complication. Olinger, G.N., Hottenrott, C., Mulder, D.G., Maloney, J.V., Miller, J., Patterson, R.W., Sullivan, S.F., Buckberg, G.D. J. Thorac. Cardiovasc. Surg. (1976) [Pubmed]
  15. Hypocalcemic toxicity and atypical reactions in therapeutic plasma exchange. Weinstein, R. Journal of clinical apheresis. (2001) [Pubmed]
  16. Cytotoxic edema is independent of NMDA ion channel activation following middle cerebral artery occlusion (MCAO). An in vivo autoradiographic and MRI study. Di, X., Alves, O.L., Bullock, R. Neurol. Res. (2003) [Pubmed]
  17. Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. Stewart, H.S., Ridgway, A.E., Dixon, M.J., Bonshek, R., Parveen, R., Black, G. Hum. Mutat. (1999) [Pubmed]
  18. Cell death and cancer: replacement of apoptotic genes and inactivation of death suppressor genes in therapy. Favrot, M., Coll, J.L., Louis, N., Negoescu, A. Gene Ther. (1998) [Pubmed]
  19. Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles. Spence, M.W., Goldbloom, A.L., Burgess, J.K., D'entremont, D., Ripley, B.A., Weldon, K.L. J. Med. Genet. (1977) [Pubmed]
  20. Non-invasive evaluation of the kinetics of allergic and irritant contact dermatitis. Astner, S., González, E., Cheung, A.C., Rius-Díaz, F., Doukas, A.G., William, F., González, S. J. Invest. Dermatol. (2005) [Pubmed]
  21. Increased calcium permeability of cold-stored erythrocytes. Wiley, J.S., McCulloch, K.E., Bowden, D.S. Blood (1982) [Pubmed]
  22. Positron emission tomographic studies of cerebral benzodiazepine-receptor binding in chronic alcoholics. Gilman, S., Koeppe, R.A., Adams, K., Johnson-Greene, D., Junck, L., Kluin, K.J., Brunberg, J., Martorello, S., Lohman, M. Ann. Neurol. (1996) [Pubmed]
  23. Effect of intermittent pneumatic compression of foot and calf on walking distance, hemodynamics, and quality of life in patients with arterial claudication: a prospective randomized controlled study with 1-year follow-up. Delis, K.T., Nicolaides, A.N. Ann. Surg. (2005) [Pubmed]
  24. E-selectin expression in experimental models of inflammation in mice. Henseleit, U., Steinbrink, K., Goebeler, M., Roth, J., Vestweber, D., Sorg, C., Sunderkötter, C. J. Pathol. (1996) [Pubmed]
  25. Ca2+- and Mg-ATP-dependent shape change of human erythrocyte ghosts and triton shells. Jinbu, Y., Sato, S., Nakao, M., Tsukita, S. Exp. Cell Res. (1984) [Pubmed]
  26. Labeling of human platelets with [111In) 8-hydroxyquinoline. Scheffel, U., Tsan, M.F., McIntyre, P.A. J. Nucl. Med. (1979) [Pubmed]
  27. Erythroid abnormalities in rheumatoid arthritis: the role of erythropoietin. Remacha, A.F., Rodríguez-de la Serna, A., García-Dié, F., Geli, C., Díaz, C., Gimferrer, E. J. Rheumatol. (1992) [Pubmed]
  28. Effects of rejuvenation of blood on 2,3-diphosphoglycerate and adenosine triphosphate and mechanical resistance of red blood cells. Hong, T.V., Wuilleret, B. Vox Sang. (1975) [Pubmed]
  29. Topical immunotherapy in alopecia areata. What, how, and why? Hoffmann, R., Happle, R. Dermatologic clinics. (1996) [Pubmed]
  30. C-reactive protein and electrocardiographic ST-segment depression additively predict mortality: the Strong Heart Study. Okin, P.M., Roman, M.J., Best, L.G., Lee, E.T., Galloway, J.M., Howard, B.V., Devereux, R.B. J. Am. Coll. Cardiol. (2005) [Pubmed]
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