Márta Medvecz

Semmelweis University, Budapest, Budapest fovaros, Hungary

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Publications (7)16.58 Total impact

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    ABSTRACT: Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare variant of the basal form of EBS, characterized by mild intraepidermal blistering due to lysis of basal keratinocytes and with a progressive reticular hyperpigmentation on the trunk and extremities. A limited number of cases - to date twenty unrelated families - have been published from all over the world, including thirteen reports from Europe. We here report the first Hungarian case in a four generation pedigree with EBS-MP symptoms and prove the diagnosis by mutation analysis. A heterozygous p.Pro25Leu mutation in the first exon of KRT5, together with the heterozygous polymorphism p.Gly138Glu, was identified in all the five affected family members studied. Our report extends the limited number of EBS-MP cases and gives further evidence that KRT5 mutations are responsible for this rare phenotype.
    European journal of dermatology: EJD 10/2010; 20(6):698-700. · 1.76 Impact Factor
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    ABSTRACT: Tumour-specific expression of matrix metalloproteinase (MMP)-7 has been noted in cutaneous squamous cell carcinomas (SCCs) in patients with recessive dystrophic epidermolysis bullosa (RDEB). To examine the potential role of MMP-7 in shedding of heparin-binding epidermal growth factor-like growth factor (HB-EGF) in RDEB-associated and sporadic SCCs. Tissue microarrays of RDEB-associated SCC (n = 20), non-EB SCC (n = 60) and Bowen disease (n = 28) were immunostained for MMP-7, CD44 variant 3 (CD44v3) and HB-EGF. Shedding of HB-EGF was studied in vitro using two cutaneous SCC cell lines. Immunohistochemical analysis showed that HB-EGF was absent in tumour cells when MMP-7 and CD44v3 colocalized, and that the absence of HB-EGF was more pronounced in RDEB-associated SCCs than in non-EB SCCs. The loss of HB-EGF in MMP-7-CD44v3 double-positive areas was interpreted to indicate shedding and activation of HB-EGF; this was also detected in Bowen disease indicating its importance in the early phase of SCC development. Specific knockdown of MMP-7 expression in human cutaneous SCC cells by small interfering RNA inhibited shedding of HB-EGF and resulted in diminished activation of the EGF receptor (EGFR) and ERK1/2, and in reduced proliferation of SCC cells. These findings provide evidence for the role of MMP-7 in promoting the growth of cutaneous SCCs by shedding HB-EGF, and identify EGFR signalling as a potential therapeutic target in RDEB-associated SCC and unresectable sporadic cutaneous SCC.
    British Journal of Dermatology 10/2010; 163(4):726-35. · 3.76 Impact Factor
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    ABSTRACT: Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive and the first symptoms usually present in childhood. Consequences of the disease are disability and premature death. The disease in females could be as severe as in males although women may be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline has been summarized by a Hungarian multi-disciplinary working group consisting of physicians who are involved in diagnosis and care of Fabry patients. Previous clinical studies, published articles, and recently established international treatment guidelines were reviewed by the group.
    Orvosi Hetilap 08/2010; 151(31):1243-51.
  • Márta Medvecz, Sarolta Kárpáti
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    ABSTRACT: Hereditary EB is a rare skin disease that occurs worldwide and in all racial groups. There are currently 60 families affected and about 150 patients with EB under care in Hungary. The care of patients with EB in Hungary is discussed.
    Dermatologic clinics 04/2010; 28(2):421-3, xv. · 1.29 Impact Factor
  • Journal of Investigative Dermatology 09/2008; 129(1):229-31. · 6.19 Impact Factor
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    ABSTRACT: The Torque Teno virus (TTV), a member of virus genus Anellovirus has been shown to be commonly present in humans, yet without detectable pathogenicity. Recent studies imply that TTV may contribute to provoke autoimmune progresses in systemic lupus erythematosus and idiopathic inflammatory myopathies. We aimed to study the presence of TTV in a group of patients with autoimmune bullous diseases with a further goal to identify long-lasting foreign antigen, such as TTV as possible triggers of skin-specific autoimmunity. We performed in silico research to study similarities between known TTV sequences and antigens of bullous pemphigoid (BP), pemphigus vulgaris (PV) and dermatitis herpetiformis (DH). Basic Local Alignment Search Tool results showed matching regions for the major BP antigens BP180 and BP230, PV antigen desmoglein 3 and DH antigen transglutaminase 3 and disclosed overlapping, antigen-predicted sequences only for BP180 regions. We also assessed the prevalence of TTV in these disorders and compared them with the results from two healthy blood donor groups (group 1: sex- and age-matched for the general bullous group, n = 95; group 2: sex- and age-matched for BP, n = 50). Furthermore, we assayed lymphocytes from four TTV DNA and BP180 NC16A blot-positive BP patients and three controls in a standard lymphocyte transformation test with a TTV peptide from the conserved ORF(Open Reading Frame)1/N22 region. We found that the detection rate of TTV was comparable with that in healthy controls in the group of PV (19/33); whereas detection rates in DH showed a slight, but not significant tendency for elevation (17/20). Contrary, the TTV prevalence in BP patients was significantly elevated (group 1: 36/40 vs group 2: 31/50, P < 0.032). Lymphocytes from all four virus-positive BP patients heavily reacted to TTV peptide while two of the three healthy controls have shown not to recognize the viral sequences. Only the TTV carrier healthy control had a minor reaction at lowest peptide concentration. The combined in silico, polymerse chain reaction and in vitro cell assay data of the present study indicate that a TTV persistence may contribute to the pathogenesis of BP.
    Experimental Dermatology 05/2008; 17(5):446-54. · 3.58 Impact Factor
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    ABSTRACT: Az elmúlt három évben megteremtettük hazánkban a legsúlyosabb örökletes bőrgyógyászati kórképek közt egyes keratinizációs zavarok (pl. társult ichthyosisok, dyskeratosis follicularis) ultrastrukturális és genetikai vizsgálatainak alapjait, lehetővé téve a prevenciót célzó DNS alapú prenatális diagnosztikát. Dyskeratosis follicularisban szenvedő betegekben az ATP2A2 gén 11 heterozigóta mutációját találtunk, melyből nyolc variációt elsőként detektáltunk. Hailey-Hailey kóros betegekben az ATP2C1 gént vizsgálva 3 új mutációt találtunk. A klinikai kép és a háttérben álló mutációk között egyértelmű genotípus-fenotípus összefüggést nem volt. Korábbi adatok alapján Hailey-Hailey-kóros betegekből származó hámsejtekben a megemelkedett intracelluláris kalciumkoncentráció strukturális és funkcionális következményeit kerestük. A betegekből származó sejtekben csökkent az involukrin expressziója, míg a késői differenciációs markerek szintje nem változott. E jelenség hátterében a transzkriptum fokozott lebomlása állt. A bazális keratinocytákban specifikusan expresszálódó keratin 5 és 14 gének teljeskörű vizsgálatát és a KRT14 pseudogén allélspecifikus amplifikációval történő elkülönítését végeztük. A KRT14 gén új (L136Q, E411K, I412N) és egy ismert (R388C) valamint a KRT5 gén (R331G, E170K) mutációit azonosítottuk. Négy Comel-Netherton szindrómában szenvedő beteg esetében a SPINK5 gén mutáció analízisét végeztük el és bevezettük a gén RNS szintű vizsgálatát. | In the past three years we set up the ultrastructure and genetic analyses of the most serious of the heritable skin diseases (icthyoses, dyskeratinosis follicularis). This allows the preventive DNA prenatal diagnosis of these diseases. We were the first to find 8 heterozygote mutations in the ATP2A2 gene of patients suffering from Darier disease. We also found 3 novel mutations in the ATP2C1 gene of patients with Hailey-Hailey disease. There was no clear genotype-phenotype correlation between the clinical symptoms and the underlying mutation. Based on earlier data showing increased calcium levels in the skin cells of Hailey-Hailey patients, we looked for structural and functional consequences of raised calcium levels. In cells derived from such patients we found a decrease in involucrine expression, while late differentiation marker levels remained unchanged. This decreased expression was due to an increase in transcript decay. We carried out a comprehensive analysis of keratin 5 and 14 genes, using allele specific amplification to exclude the KRT14 pseudogene. We identified novel mutations (L136Q, E411K, I412N) in the KRT14 gene, we also found the previously identified mutation (R388C), and mutations in the KRT5 gene (R331G, E170K). We carried out mutation analyses and initiated studies of RNA levels of the SPINK5 gene in 4 patients suffering from Comel-Netherton syndrome.

Publication Stats

28 Citations
16.58 Total Impact Points

Institutions

  • 2008–2010
    • Semmelweis University
      • Department of Dermatology, Dermatooncology and Venerology
      Budapest, Budapest fovaros, Hungary