10/08/2017
A study published in the journal Pediatrics outlined the prospect of a new hereditary transmission mechanism of Incontinentia pigmenti disease. A team of researchers from the Institute of genetics and biophysics of Cnr of Naples with the Pediatric hospital Bambino Gesù and the University of Ferrara, discovered the novel forms of familiarity in Incontinentia pigmenti, by genetically characterizing the molecular alteration in somatic and germline cells of IP male father, although to date it was referring to the exclusive maternal inheritance
Incontinentia pigmenti (IP; OMIM#308300) is a rare disease due to ‘nemo’ gene mutations located on X-chromosome. The Ip patients are only females because mutations in ‘nemo’ gene are lethal in male. Although very rare, Ip -male can survive thanks to ‘somatic mosaicism’ for the ‘nemo’ mutation that early occurs during the development and that unfortunately makes very hard the identification of the alteration in the peripheral blood samples. A study published on Pediatrics, coordinated by Matilde Valeria Ursini, at the Institute of Institute of genetics and biophysics ‘Adriano Buzzati-Traverso’ of the National research council (Igb-Cnr), and in collaboration with Pediatric hospital Bambino Gesù in Rome and with University of Ferrara, showed that Ip males can generate Ip daughters.
“The results of this study open up new perspectives for molecular diagnosis and genetic counselling up to now impossible. Thanks to active collaboration between clinical centres and Cnr, today we can give a molecular response to Ip male patients” comment Maya El Hacheml Achem and Andrea Diociaiuti, two researchers of Hospital Bambino Gesù.
"Through non-invasive analysis of tissues such as urine, seminal fluid and skin biopsy we have genetically characterized the mutated cells and we have found that in seminal fluid they can fertilize and transfer the mutation to daughters increasing a risk of paternal transmission, an aspect that should be evaluated in genetic counselling” says Matilde Valeria Ursini, the principal investigator from Cnr. Moreover this study point out on the use of biological material deposited at the genetic biobank for Incontinentia pigmenti (Ipgb), Incontinentia pigmenti genetic biobank of Igb-Abt of Naples (http://www.igb.cnr.it/ipgb). This Cnr-Ipgb biobank, part of the european network of Bbrmi (Biobanking and biomolecular resources research infrastructure european research infrastructure consortium), collects biological samples from IP patients worldwide according to the Italian and European laws.
"The use of samples stored in Ipgb greatly facilitates the achievement of new scientific results because, biological data and materials are centralized, homogeneous and easier to use for research scientific. Moreover, the patient information are immediately available for any further evaluation. We currently have about 40 Ip male cases in the Ipgb that immediately will benefit from information of this study, for a molecular diagnosis and for genetic counselling" comments Francesca Fusco, Cnr researcher and Manager of the Ipgb biobank. The study was made possible thanks to the contribution of the Italian Association of patients suffering from Incontinentia pigmenti, Ipassi Onlus (http://www.incontinentiapigmenti.it)
For further information: Matilde Valeria Ursini, Istituto di genetica e biofisica ‘Adriano Buzzati Traverso’, Napoli, tel. 0816132262, e-mail: matildevaleria.ursini@igb.cnr.it Francesca Fusco, Istituto di genetica e biofisica ‘Adriano Buzzati Traverso’, Napoli, tel. 0816132302 (studio), tel. 0816132257 (laboratorio) e-mail: francesca.fusco@igb.cnr.it, Incontinentia.pigmenti@igb.cnr.it
Press office Cnr: Capo ufficio stampa Marco Ferrazzoli, tel. 0649933383, e-mail: marco.ferrazzoli@cnr.it; Chiara Caproni, tel. 0649933216, e-mail: chiara.caproni@amministrazione