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Article ; Online: Pilot‐scale photocatalytic detoxification and disinfection of hazardous medical wastewater

Berberidou, Chrysanthi / Tsoumachidou, Sophia / Paspaltsis, Ioannis / Kitsiou, Vasiliki / Kanata, Eirini / Xanthopoulos, Kōstas / Sklaviadis, Theodoros / Arsenakis, Athansios / Poulios, Ioannis

Journal of Chemical Technology & Biotechnology. 2023 Sept., v. 98, no. 9 p.2235-2246

2023

Abstract: BACKGROUND: Treatment of liquid hazardous medical wastewater produced by healthcare laboratories is a global matter that has been inadequately addressed. In this study, the potential of heterogeneous and homogeneous photocatalytic oxidation to detoxify ... ...

Abstract	BACKGROUND: Treatment of liquid hazardous medical wastewater produced by healthcare laboratories is a global matter that has been inadequately addressed. In this study, the potential of heterogeneous and homogeneous photocatalytic oxidation to detoxify and disinfect such effluents was investigated. Experiments were performed using two toxic effluents and one of simultaneous toxic and infectious composition in pilot scale, in a novel photocatalytic inactivation system. RESULTS: Photocatalytic experimental runs performed with both toxic effluents showed that photo‐Fenton‐assisted TiO₂ photocatalytic oxidation under optimal conditions was the most efficient process among the tested ones, when the initial dissolved organic carbon values (DOC₀) ranged from 100 to 1000 mg L⁻¹. Furthermore, the potential of catalyst reuse was examined and verified for five sequential runs. Moreover, phytotoxicity was either eliminated or significantly reduced after photocatalytic processing under optimal conditions in the case of the second wastewater of toxic composition, while ecotoxicity showed a similar trend, highlighting the importance of extended mineralization for the removal of toxicity. The performance of the pilot photocatalytic inactivation system concerning the inactivation of bio‐pollutants was tested on five different types of microbes. Four of them were completely inactivated in relatively short periods, while survival of the more resistant bacterial endospores was found to be decreased to >99% after 5 h of treatment. CONCLUSION: Toxic and infectious hazardous medical effluents are highly recalcitrant targets in terms of mineralization, detoxification and inactivation. However, photocatalytic oxidation may serve as an efficient processing tool, providing alternative or complementary solutions to this highly challenging issue. © 2023 The Authors. Journal of Chemical Technology and Biotechnology published by John Wiley & Sons Ltd on behalf of Society of Chemical Industry (SCI).
Keywords	biotechnology ; catalysts ; disinfection ; ecotoxicology ; endospores ; health services ; liquids ; mineralization ; organic carbon ; oxidation ; photocatalysis ; phytotoxicity ; wastewater
Language	English
Dates of publication	2023-09
Size	p. 2235-2246.
Publishing place	John Wiley & Sons, Ltd.
Document type	Article ; Online
Note	JOURNAL ARTICLE
ZDB-ID	1479465-2
ISSN	1097-4660 ; 0268-2575
ISSN (online)	1097-4660
ISSN	0268-2575
DOI	10.1002/jctb.7448
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Photo-Fenton and TiO

Kanata, Eirini / Paspaltsis, Ioannis / Sotiriadis, Sotiris / Berberidou, Chrysanthi / Tsoumachidou, Sophia / Dafou, Dimitra / Xanthopoulos, Konstantinos / Arsenakis, Minas / Arsenakis, Athanasios / Poulios, Ioannis / Sklaviadis, Theodoros

Molecules (Basel, Switzerland)

2023 Volume 28, Issue 3

Abstract: Photocatalytic inactivation of pathogens in aqueous waste is gaining increasing attention. Several homogeneous and heterogeneous photocatalytic protocols exist using the Fenton's reagent and ... ...

Abstract	Photocatalytic inactivation of pathogens in aqueous waste is gaining increasing attention. Several homogeneous and heterogeneous photocatalytic protocols exist using the Fenton's reagent and TiO
MeSH term(s)	Hydrogen Peroxide ; Titanium/pharmacology ; Catalysis
Chemical Substances	titanium dioxide (15FIX9V2JP) ; Hydrogen Peroxide (BBX060AN9V) ; Titanium (D1JT611TNE)
Language	English
Publishing date	2023-01-26
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	1413402-0
ISSN	1420-3049 ; 1431-5165 ; 1420-3049
ISSN (online)	1420-3049
ISSN	1431-5165 ; 1420-3049
DOI	10.3390/molecules28031199
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Article: Photocatalytic disinfection and purification of water employing reduced graphene oxide/TiO2 composites

Berberidou, Chrysanthi / Kyzas, George Z / Paspaltsis, Ioannis / Sklaviadis, Theodoros / Poulios, Ioannis

Journal of chemical technology and biotechnology. 2019 Dec., v. 94, no. 12

2019

Abstract: BACKGROUND: Recombination of photogenerated carriers in titanium dioxide (TiO₂)‐mediated semiconducting photocatalysis is considered to be the principal obstacle in its unlimited exploitation in practical applications. Hybridization of TiO₂ with graphene‐ ...

Abstract	BACKGROUND: Recombination of photogenerated carriers in titanium dioxide (TiO₂)‐mediated semiconducting photocatalysis is considered to be the principal obstacle in its unlimited exploitation in practical applications. Hybridization of TiO₂ with graphene‐based materials appears to be a highly promising alternative. In this context, reduced graphene oxide (rGO)/TiO₂ composites were prepared using a simple ultrasonically assisted route under mild reaction conditions. RESULTS: The as‐prepared composites were characterized by X‐ray diffraction (XRD), scanning electron microscopy (SEM), energy‐dispersive X‐ray spectrometry (EDS), Fourier‐transform infrared spectroscopy (FTIR) and nitrogen adsorption–desorption isotherms. Photocatalytic efficiencies of the as‐prepared composites were evaluated employing the pesticide clopyralid as a model pollutant. Initial degradation and mineralization rates obtained in the presence of the as‐prepared composites were, in all cases, higher than the one obtained in the presence of the bare TiO₂, with 5% rGO/TiO₂ achieving the highest r₀ and rDOC values. The as‐prepared composites also were evaluated based on their potential to inactivate bacterial endospores of the Bacillus stearothermophilus species, well‐known for their extraordinary resistance to most inactivation processes. Prevalence of 5% rGO/TiO₂ in the inactivation of B. stearothermophilus among all as‐prepared materials was evident, accomplished within 120 min of UV‐A illumination. Real‐time PCR experiments enabled the detection of genomic DNA released during photocatalytic oxidation, in the presence of 5% rGO/TiO₂ and UV‐A, suggesting lysis of the outer and inner spore coat caused by the generated ROS. CONCLUSIONS: These findings demonstrate the potential of rGO, a low‐cost, nontoxic material to serve as a reliable alternative in the enhancement of TiO₂ photocatalytic efficiency in water processing applications. © 2019 Society of Chemical Industry
Keywords	DNA ; Fourier transform infrared spectroscopy ; Geobacillus stearothermophilus ; X-ray diffraction ; clopyralid ; disinfection ; endospores ; energy-dispersive X-ray analysis ; graphene ; graphene oxide ; lighting ; mineralization ; models ; nitrogen ; oxidation ; photocatalysis ; pollutants ; quantitative polymerase chain reaction ; scanning electron microscopy ; semiconductors ; titanium dioxide ; ultraviolet radiation ; water purification
Language	English
Dates of publication	2019-12
Size	p. 3905-3914.
Publishing place	John Wiley & Sons, Ltd
Document type	Article
Note	JOURNAL ARTICLE
ZDB-ID	1479465-2
ISSN	1097-4660 ; 0268-2575
ISSN (online)	1097-4660
ISSN	0268-2575
DOI	10.1002/jctb.6188
Database	NAL-Catalogue (AGRICOLA)

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Article: Application of antibody phage display to identify potential antigenic neural precursor cell proteins.

Paspaltsis, Ioannis / Kesidou, Evangelia / Touloumi, Olga / Lagoudaki, Roza / Boziki, Marina / Samiotaki, Martina / Dafou, Dimitra / Sklaviadis, Theodoros / Grigoriadis, Nikolaos

Journal of biological research (Thessalonike, Greece)

2020 Volume 27, Page(s) 14

Abstract: Background: The discovery of neural precursor cells (NPCs) and the concomitant intensive research in the field offer regenerative medicine novel approaches, enabling it to tackle conditions, such as neurodegenerative diseases. Transplantation of NPCs is ...

Abstract	Background: The discovery of neural precursor cells (NPCs) and the concomitant intensive research in the field offer regenerative medicine novel approaches, enabling it to tackle conditions, such as neurodegenerative diseases. Transplantation of NPCs is nowadays considered a cutting-edge treatment for these conditions and many related clinical trials have been already completed or are still ongoing. However, little is known about the antigenicity of NPCs, with most studies addressing the question whether their antigenicity could lead to rejection of the transplanted cells. Results: In this study we investigated the antigenic potential of syngeneic NPCs emulsion, upon subcutaneous (s.c.) administration to wild type C57BL/6 mice, following a standard immunization protocol. The whole IgG repertoire expressed upon immunization was cloned into a Fab phage display vector. From the created phage display library, Fab expressing clones interacting with NPCs lysate proteins were selected with the biopanning technique. The IgG Fab fragment from clone 65 proved to be reactive against antigens originating from NPCs lysates and/or whole brain lysate in diverse immunological assays. Conclusions: Using a standard immunization protocol to administer NPCs antigens, and applying the Fab fragment phage display technique, we were able to isolate at least a monoclonal IgG Fab fragment, which interacts with different mouse brain proteins. It is not clear whether such antibodies are produced in the host organisms, following NPCs transplantation.
Language	English
Publishing date	2020-08-02
Publishing country	Greece
Document type	Journal Article
ZDB-ID	2186880-3
ISSN	2241-5793 ; 1790-045X
ISSN (online)	2241-5793
ISSN	1790-045X
DOI	10.1186/s40709-020-00123-4
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Article ; Online: L-Dopa decarboxylase interaction with the major signaling regulator ΡΙ3Κ in tissues and cells of neural and peripheral origin.

Vassiliou, Alice G / Siaterli, Maria-Zacharenia / Frakolaki, Efseveia / Gkogkosi, Panayiota / Paspaltsis, Ioannis / Sklaviadis, Theodoros / Vassilacopoulou, Dido / Vassilaki, Niki

Biochimie

2019 Volume 160, Page(s) 76–87

Abstract: L-Dopa decarboxylase (DDC) catalyzes the decarboxylation of L-Dopa to dopamine and 5-hydroxytryptophan (5-HTP) to serotonin. Although DDC has been purified from a variety of peripheral organs, including the liver, kidney and pancreas, the physiological ... ...

Abstract	L-Dopa decarboxylase (DDC) catalyzes the decarboxylation of L-Dopa to dopamine and 5-hydroxytryptophan (5-HTP) to serotonin. Although DDC has been purified from a variety of peripheral organs, including the liver, kidney and pancreas, the physiological significance of the peripherally expressed enzyme is not yet fully understood. DDC has been considered as a potential novel biomarker for various types of cancer, however, the role of DDC in the development of hepatocellular carcinoma (HCC) remains to be evaluated. Phosphatidylinositol 3-kinase (PI3K), on the other hand, has been shown to play a key role in the tumorigenesis, proliferation, metastasis, apoptosis, and angiogenesis of HCC by regulating gene expression. We initially identified the interaction of DDC with PI3K by means of the phage display methodology. This association was further confirmed in human hepatocellular carcinoma cell lines, human embryonic kidney cells, human neuroblastoma cells, as well as mouse brain, by the use of specific antibodies raised against DDC and PI3K. Functional aspects of the above interaction were studied upon treatment with the DDC inhibitor carbidopa and the PI3K inhibitor LY294002. Interestingly, our data demonstrate the expression of the neuronal type DDC mRNA in HCC cells. The present investigation provides new evidence on the possible link of DDC with the PI3K pathway, underlining the biological significance of this complex enzyme.
MeSH term(s)	Aromatic Amino Acid Decarboxylase Inhibitors/pharmacology ; Aromatic-L-Amino-Acid Decarboxylases/chemistry ; Aromatic-L-Amino-Acid Decarboxylases/genetics ; Aromatic-L-Amino-Acid Decarboxylases/metabolism ; Carbidopa/pharmacology ; Carcinoma, Hepatocellular/drug therapy ; Carcinoma, Hepatocellular/metabolism ; Carcinoma, Hepatocellular/pathology ; Cell Survival ; Gene Expression Regulation, Neoplastic ; Humans ; Liver Neoplasms/drug therapy ; Liver Neoplasms/metabolism ; Liver Neoplasms/pathology ; Neuroblastoma/drug therapy ; Neuroblastoma/metabolism ; Neuroblastoma/pathology ; Peptide Fragments/metabolism ; Peptide Library ; Phosphatidylinositol 3-Kinases/genetics ; Phosphatidylinositol 3-Kinases/metabolism ; Tumor Cells, Cultured
Chemical Substances	Aromatic Amino Acid Decarboxylase Inhibitors ; Peptide Fragments ; Peptide Library ; Phosphatidylinositol 3-Kinases (EC 2.7.1.-) ; Aromatic-L-Amino-Acid Decarboxylases (EC 4.1.1.28) ; DDC protein, human (EC 4.1.1.28) ; Carbidopa (MNX7R8C5VO)
Language	English
Publishing date	2019-02-20
Publishing country	France
Document type	Journal Article
ZDB-ID	120345-9
ISSN	1638-6183 ; 0300-9084
ISSN (online)	1638-6183
ISSN	0300-9084
DOI	10.1016/j.biochi.2019.02.009
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Article ; Online: Homogenous photocatalytic decontamination of prion infected stainless steel and titanium surfaces.

Berberidou, Chrysanthi / Xanthopoulos, Konstantinos / Paspaltsis, Ioannis / Lourbopoulos, Athanasios / Polyzoidou, Eleni / Sklaviadis, Theodoros / Poulios, Ioannis

Prion

2013 Volume 7, Issue 6, Page(s) 488–495

Abstract: Prions are notorious for their extraordinary resistance to traditional methods of decontamination, rendering their transmission a public health risk. Iatrogenic Creutzfeldt-Jakob disease (iCJD) via contaminated surgical instruments and medical devices ... ...

Abstract	Prions are notorious for their extraordinary resistance to traditional methods of decontamination, rendering their transmission a public health risk. Iatrogenic Creutzfeldt-Jakob disease (iCJD) via contaminated surgical instruments and medical devices has been verified both experimentally and clinically. Standard methods for prion inactivation by sodium hydroxide or sodium hypochlorite have failed, in some cases, to fully remove prion infectivity, while they are often impractical for routine applications. Prion accumulation in peripheral tissues and indications of human-to-human bloodborne prion transmission, highlight the need for novel, efficient, yet user-friendly methods of prion inactivation. Here we show both in vitro and in vivo that homogenous photocatalytic oxidation, mediated by the photo-Fenton reagent, has the potential to inactivate the pathological prion isoform adsorbed on metal substrates. Photocatalytic oxidation with 224 μg mL(-1) Fe (3+), 500 μg mL(-1) h(-1) H 2O 2, UV-A for 480 min lead to 100% survival in golden Syrian hamsters after intracranial implantation of stainless steel wires infected with the 263K prion strain. Interestingly, photocatalytic treatment of 263K infected titanium wires, under the same experimental conditions, prolonged the survival interval significantly, but failed to eliminate infectivity, a result that we correlate with the increased adsorption of PrP(Sc) on titanium, in comparison to stainless steel. Our findings strongly indicate that our, user--and environmentally--friendly protocol can be safely applied to the decontamination of prion infected stainless steel surfaces.
MeSH term(s)	Animals ; Catalysis ; Cricetinae ; Decontamination/methods ; Humans ; Hydrogen Peroxide/chemistry ; Iron/chemistry ; Mesocricetus ; Oxidants, Photochemical/chemistry ; Photolysis ; Prions/isolation & purification ; Prions/physiology ; Prostheses and Implants/virology ; Stainless Steel/chemistry ; Titanium/chemistry
Chemical Substances	Fenton's reagent ; Oxidants, Photochemical ; Prions ; Stainless Steel (12597-68-1) ; Hydrogen Peroxide (BBX060AN9V) ; Titanium (D1JT611TNE) ; Iron (E1UOL152H7)
Language	English
Publishing date	2013-11-18
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2267671-5
ISSN	1933-690X ; 1933-690X
ISSN (online)	1933-690X
ISSN	1933-690X
DOI	10.4161/pri.27180
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Article ; Online: Inhibition of PrP(Sc) formation in scrapie infected N2a cells by 5,7,8-trimethyl-3,4-dihydro-2H-1,4-benzoxazine derivatives.

Koukouli, Fani / Paspaltsis, Ioannis / Salta, Evgenia / Xanthopoulos, Konstantinos / Koini, Eftychia N / Calogeropoulou, Theodora / Sklaviadis, Theodoros

Prion

2012 Volume 6, Issue 5, Page(s) 470–476

Abstract: Prion diseases are fatal, neurodegenerative diseases characterized by the structural conversion of the normal, cellular prion protein, PrP (C) into an abnormally structured, aggregated and partially protease-resistant isoform, termed PrP (Sc) . Although ...

Abstract	Prion diseases are fatal, neurodegenerative diseases characterized by the structural conversion of the normal, cellular prion protein, PrP (C) into an abnormally structured, aggregated and partially protease-resistant isoform, termed PrP (Sc) . Although substantial research has been directed toward development of therapeutics targeting prions, there is still no curative treatment for the disease. Benzoxazines are bicyclic heterocyclic compounds possessing several pharmaceutically important properties, including neuroprotection and reactive oxygen species scavenging. In an effort to identify novel inhibitors of prion formation, several 5,7,8-trimethyl-1,4-benzoxazine derivatives were evaluated in vitro for their effectiveness on the expression levels of normal PrP (C) and its conversion to the abnormal isoforms of PrP (Sc) in a scrapie-infected cell culture model. The most potent compound was 2-(4-methoxyphenyl)-5,7,8-trimethyl-3,4-dihydro-2H-1,4-benzoxazine, with a diminishing effect on the formation of PrP (Sc) , thus establishing a class of compounds with a promising therapeutic use against prion diseases.
MeSH term(s)	Animals ; Benzoxazines/chemistry ; Benzoxazines/pharmacology ; Cell Line, Tumor ; Mice ; PrPC Proteins/metabolism ; PrPSc Proteins/antagonists & inhibitors ; PrPSc Proteins/metabolism ; Scrapie/metabolism
Chemical Substances	2-(4-methoxyphenyl)-5,7,8-trimethyl-3,4-dihydro-2H-1,4-benzoxazine ; Benzoxazines ; PrPC Proteins ; PrPSc Proteins
Language	English
Publishing date	2012-08-23
Publishing country	United States
Document type	Journal Article
ZDB-ID	2267671-5
ISSN	1933-690X ; 1933-690X
ISSN (online)	1933-690X
ISSN	1933-690X
DOI	10.4161/pri.21913
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Article: Titanium dioxide photocatalytic inactivation of prions.

Paspaltsis, Ioannis / Kotta, Konstantia / Lagoudaki, Roza / Grigoriadis, Nikolaos / Poulios, Ioannis / Sklaviadis, Theodoros

The Journal of general virology

2006 Volume 87, Issue Pt 10, Page(s) 3125–3130

Abstract: Prions are postulated to be the infectious agents of a family of transmissible, fatal, neurodegenerative disorders affecting both humans and animals. The possibility of prion transmission constitutes a public-health risk that confronts regulatory ... ...

Abstract	Prions are postulated to be the infectious agents of a family of transmissible, fatal, neurodegenerative disorders affecting both humans and animals. The possibility of prion transmission constitutes a public-health risk that confronts regulatory authorities everywhere. The main problem in handling prions is the fact that they are extremely resistant to standard decontamination methods. Thus, the use of harsh and expensive practices to destroy prions is inevitable. The development of applicable and efficient prion-inactivation practices is still highly important for the prevention of accidental transmission. In the search for effective and environmentally friendly methods to eliminate organic compounds and bacteria, much attention has been focused on the so-called advanced oxidation processes. These are based on the formation of hydroxyl radicals, which are known to possess a high reductive potential. This study tested the potential of titanium dioxide, an inexpensive and completely inert reagent, to inactivate prions in a heterogeneous photocatalytic process. Initial in vitro experiments were followed by a bioassay with the scrapie strain 263K in Syrian hamsters. The results obtained from this study indicate that titanium dioxide photocatalytic treatment of scrapie-infected brain homogenates reduces infectivity titres significantly.
MeSH term(s)	Animals ; Cricetinae ; Decontamination/methods ; Light ; Male ; Photochemistry ; PrPSc Proteins/chemistry ; PrPSc Proteins/drug effects ; PrPSc Proteins/metabolism ; Titanium/pharmacology
Chemical Substances	PrPSc Proteins ; titanium dioxide (15FIX9V2JP) ; Titanium (D1JT611TNE)
Language	English
Publishing date	2006-10
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	219316-4
ISSN	1465-2099 ; 0022-1317
ISSN (online)	1465-2099
ISSN	0022-1317
DOI	10.1099/vir.0.81746-0
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Article ; Online: Novel mutation of the PRNP gene of a clinical CJD case

Collinge John / Kazis Dimitrios / Plaitakis Andreas / Latsoudis Helen / Bostantjopoulou Sevasti / Paspaltsis Ioannis / Kotta Konstantia / Sklaviadis Theodoros

BMC Infectious Diseases, Vol 6, Iss 1, p

2006 Volume 169

Abstract: Abstract Background Transmissible spongiform encephalopathies (TSEs), a group of neurodegenerative diseases, are thought to be caused by an abnormal isoform of a naturally occurring protein known as cellular prion protein, PrP C . The abnormal form of ... ...

Abstract	Abstract Background Transmissible spongiform encephalopathies (TSEs), a group of neurodegenerative diseases, are thought to be caused by an abnormal isoform of a naturally occurring protein known as cellular prion protein, PrP C . The abnormal form of prion protein, PrP Sc accumulates in the brain of affected individuals. Both isoforms are encoded by the same prion protein gene ( PRNP ), and the structural changes occur post-translationally. Certain mutations in the PRNP gene result in genetic TSEs or increased susceptibility to TSEs. Case presentation A 70 year old woman was admitted to the hospital with severe confusion and inability to walk. Relatives recognized memory loss, gait and behavioral disturbances over a six month period prior to hospitalization. Neurological examination revealed Creutzfeldt-Jakob disease (CJD) related symptoms such as incontinence, Babinski sign and myoclonus. EEG showed periodic sharp waves typical of sporadic CJD and cerebrospinal fluid analysis (CSF) was positive for the presence of the 14-3-3-protein. As the disease progressed the patient developed akinetic mutism and died in the tenth month after onset of the disease symptoms. Unfortunately, no autopsy material was available. PRNP sequencing showed the occurrence of a point mutation on one allele at codon 193, which is altered from ACC, coding for a threonine, to ATC, encoding an isoleucine (T193I). Conclusion Here we report a novel mutation of the PRNP gene found in an elderly female patient resulting in heterozygosity for isoleucine and threonine at codon 193, in which normally homozygosity for threonine is expected (T193). The patient presented typical clinical symptoms of CJD. EEG findings and the presence of the 14-3-3 protein in the CSF, contributed to CJD diagnosis, allowing the classification of this case as a probable CJD according to the World Health Organization (WHO) accepted criteria.
Keywords	Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Internal medicine ; DOAJ:Medicine (General) ; DOAJ:Health Sciences ; Infectious and parasitic diseases ; RC109-216
Subject code	630
Language	English
Publishing date	2006-11-01T00:00:00Z
Publisher	BioMed Central
Document type	Article ; Online
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Article ; Online: Novel mutation of the PRNP gene of a clinical CJD case.

Kotta, Konstantia / Paspaltsis, Ioannis / Bostantjopoulou, Sevasti / Latsoudis, Helen / Plaitakis, Andreas / Kazis, Dimitrios / Collinge, John / Sklaviadis, Theodoros

BMC infectious diseases

2006 Volume 6, Page(s) 169

Abstract: Background: Transmissible spongiform encephalopathies (TSEs), a group of neurodegenerative diseases, are thought to be caused by an abnormal isoform of a naturally occurring protein known as cellular prion protein, PrPC. The abnormal form of prion ... ...

Abstract	Background: Transmissible spongiform encephalopathies (TSEs), a group of neurodegenerative diseases, are thought to be caused by an abnormal isoform of a naturally occurring protein known as cellular prion protein, PrPC. The abnormal form of prion protein, PrPSc accumulates in the brain of affected individuals. Both isoforms are encoded by the same prion protein gene (PRNP), and the structural changes occur post-translationally. Certain mutations in the PRNP gene result in genetic TSEs or increased susceptibility to TSEs. Case presentation: A 70 year old woman was admitted to the hospital with severe confusion and inability to walk. Relatives recognized memory loss, gait and behavioral disturbances over a six month period prior to hospitalization. Neurological examination revealed Creutzfeldt-Jakob disease (CJD) related symptoms such as incontinence, Babinski sign and myoclonus. EEG showed periodic sharp waves typical of sporadic CJD and cerebrospinal fluid analysis (CSF) was positive for the presence of the 14-3-3-protein. As the disease progressed the patient developed akinetic mutism and died in the tenth month after onset of the disease symptoms. Unfortunately, no autopsy material was available. PRNP sequencing showed the occurrence of a point mutation on one allele at codon 193, which is altered from ACC, coding for a threonine, to ATC, encoding an isoleucine (T193I). Conclusion: Here we report a novel mutation of the PRNP gene found in an elderly female patient resulting in heterozygosity for isoleucine and threonine at codon 193, in which normally homozygosity for threonine is expected (T193). The patient presented typical clinical symptoms of CJD. EEG findings and the presence of the 14-3-3 protein in the CSF, contributed to CJD diagnosis, allowing the classification of this case as a probable CJD according to the World Health Organization (WHO) accepted criteria.
MeSH term(s)	14-3-3 Proteins/cerebrospinal fluid ; Aged ; Creutzfeldt-Jakob Syndrome/cerebrospinal fluid ; Creutzfeldt-Jakob Syndrome/genetics ; Creutzfeldt-Jakob Syndrome/physiopathology ; Female ; Humans ; Mutation ; Prions/genetics ; Sequence Analysis, DNA
Chemical Substances	14-3-3 Proteins ; Prions
Language	English
Publishing date	2006-11-27
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2041550-3
ISSN	1471-2334 ; 1471-2334
ISSN (online)	1471-2334
ISSN	1471-2334
DOI	10.1186/1471-2334-6-169
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