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Scientific advances<\/p>\n
[\/et_pb_fullwidth_header][\/et_pb_section][et_pb_section fb_built=”1″ _builder_version=”4.16″ global_colors_info=”{}”][et_pb_row _builder_version=”4.16″ background_size=”initial” background_position=”top_left” background_repeat=”repeat” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.27.6″ vertical_offset_tablet=”0″ horizontal_offset_tablet=”0″ hover_enabled=”0″ z_index_tablet=”0″ text_text_shadow_horizontal_length_tablet=”0px” text_text_shadow_vertical_length_tablet=”0px” text_text_shadow_blur_strength_tablet=”1px” link_text_shadow_horizontal_length_tablet=”0px” link_text_shadow_vertical_length_tablet=”0px” link_text_shadow_blur_strength_tablet=”1px” ul_text_shadow_horizontal_length_tablet=”0px” ul_text_shadow_vertical_length_tablet=”0px” ul_text_shadow_blur_strength_tablet=”1px” ol_text_shadow_horizontal_length_tablet=”0px” ol_text_shadow_vertical_length_tablet=”0px” ol_text_shadow_blur_strength_tablet=”1px” quote_text_shadow_horizontal_length_tablet=”0px” quote_text_shadow_vertical_length_tablet=”0px” quote_text_shadow_blur_strength_tablet=”1px” header_text_shadow_horizontal_length_tablet=”0px” header_text_shadow_vertical_length_tablet=”0px” header_text_shadow_blur_strength_tablet=”1px” header_2_text_shadow_horizontal_length_tablet=”0px” header_2_text_shadow_vertical_length_tablet=”0px” header_2_text_shadow_blur_strength_tablet=”1px” header_3_text_shadow_horizontal_length_tablet=”0px” header_3_text_shadow_vertical_length_tablet=”0px” header_3_text_shadow_blur_strength_tablet=”1px” header_4_text_shadow_horizontal_length_tablet=”0px” header_4_text_shadow_vertical_length_tablet=”0px” header_4_text_shadow_blur_strength_tablet=”1px” header_5_text_shadow_horizontal_length_tablet=”0px” header_5_text_shadow_vertical_length_tablet=”0px” header_5_text_shadow_blur_strength_tablet=”1px” header_6_text_shadow_horizontal_length_tablet=”0px” header_6_text_shadow_vertical_length_tablet=”0px” header_6_text_shadow_blur_strength_tablet=”1px” box_shadow_horizontal_tablet=”0px” box_shadow_vertical_tablet=”0px” box_shadow_blur_tablet=”40px” box_shadow_spread_tablet=”0px” global_colors_info=”{}” _module_preset=”dc6ab383-11a3-454b-8ba1-6554be6042b4″ sticky_enabled=”0″]<\/p>\n
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The translational study, led by Dr. Jos\u00e9 Antonio S\u00e1nchez Alc\u00e1zar (UPO and CABD) together with Dr. Alessandra Pereira (Hospital Moinhos de Vento, Porto Alegre, Brazil), demonstrates that, in cellular models derived from three patients with PKAN, a combined treatment of pantothenate, pantethine, omega-3 and vitamin E manages to reduce iron accumulation and improve the function of the PANK2 mutant enzyme, whose alteration causes this disease. In addition, the research shows that this therapeutic combination, added to standard neurological medication, stabilized or improved clinical symptoms in the patients studied. This new treatment based on precision medicine could significantly improve the quality of life of patients with PKAN, one of the most prevalent forms of neurodegeneration with brain iron accumulation (NACH). The results of this groundbreaking study have been published in the international Orphanet Journal of Rare Diseases.<\/p>\n
A key advance in the treatment of PKAN<\/strong><\/p>\n PKAN is the most frequent subtype of a group of rare diseases known as neurodegeneration with brain iron accumulation (NACH or NBIA). These diseases mainly affect children in their first decade of life and are characterized by progressive dystonia, spasticity, optic atrophy or retinal degeneration, neuropsychiatric problems and severe motor dysfunction, for which there is no cure or standard treatments.<\/p>\n In previous work, the UPO scientific group demonstrated in fibroblasts and neuronal cells derived from PKAN patients that PANK2 enzyme deficiency causes an accumulation of iron and a severe impairment in the function of several mitochondrial processes essential for energy production. Specifically, mitochondrial lipid synthesis, the formation of proteins with iron-sulfur centers, and the activity of pyruvate dehydrogenase and mitochondrial complex I, all essential processes in mitochondrial function, are affected.<\/p>\n In the present work they have identified that the combination of pantothenate, pantethine (targeting PANK2 levels), and omega-3 and vitamin E (targeting oxidative stress and lipid peroxidation) is able to eliminate iron accumulation and increase the expression levels of the PANK2 mutant enzyme in patient-derived cells. Increased expression levels of the mutant enzyme were associated with significant improvement in major pathological alterations in PKAN cells.<\/p>\n Furthermore, supplementation of the neurological medication of PKAN patients with the combination of pantothenate, pantethine, omega-3 and vitamin E improved or delayed the progression of the patients’ motor dysfunction. Thus, supplementation with this combination may be helpful in the treatment of PKAN patients with residual expression levels of the PANK2 enzyme.<\/p>\n BrainCure Project<\/p>\n The new treatment is part of the BrainCure Project, a pioneering initiative in personalized medicine led by Dr. S\u00e1nchez Alc\u00e1zar, professor in the Department of Physiology, Anatomy and Cell Biology at the UPO. Since its inception in 2014, the team has developed specific cellular models derived from fibroblasts and neuronal cells of patients, evaluating different therapeutic options and selecting the most effective ones according to individual genetic mutations.<\/p>\n Currently the BrainCure Project is performing precision medicine in the 5 most frequent subtypes: PKAN, pantothenate kinase-associated neurodegeneration, with mutations in the PANK2 gene; PLAN, PLA2G6-associated neurodegeneration, with mutations in the PLA2G6 gene; BPAN, beta-propeller protein-associated neurodegeneration, with mutations in the WDR45 gene; MPAN, mitochondrial membrane protein-associated neurodegeneration, with mutations in the C19orf12 gene; and FAHN, fatty acid hydroxylase-associated neurodegeneration, with mutations in the FA2H gene.<\/p>\n Recognition and international outreach<\/p>\n This advance has been possible thanks to the support of institutions such as the Instituto de Salud Carlos III (FIS PI19\/00377, PI22\/00142 and European Regional Development Fund, ERDF-European Union), the Junta de Andaluc\u00eda (CTS-5725 and PY18-850), the MERCK Salud Foundation and FEDER (Spanish Federation of Rare Diseases).<\/p>\n The scientific team of the Pablo de Olavide University, working at the Andalusian Center for Developmental Biology (a joint center of CSIC, UPO and the Andalusian Regional Government) is currently performing personalized medicine in more than 40 patients from Spain and other countries such as Brazil, Colombia, Mexico, USA, France, UK, Holland, Hungary and Poland, applying this method, in addition to the BRAINCURE project,in its different projects, such as MYOCURE (focused on congenital myopathies), MITOCURE (focused on mitochondrial diseases), and CANCERCURE (focused on the search for personalized treatments for genetic susceptibility to cancer).<\/p>\n Scientific reference:<\/p>\n Pereira A, Fischinger Moura de Souza C, \u00c1lvarez-C\u00f3rdoba M, Reche-L\u00f3pez D, S\u00e1nchez-Alc\u00e1zar JA.\u00a0<\/span>A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study.\u00a0<\/b>Orphanet Journal of Rare Diseases<\/span><\/i>.<\/span><\/b>\u00a02024 Nov 28;19(1):442. DOI:\u00a0<\/span>10.1186\/s13023-024-03453-x<\/a><\/p>\n This press release was written in collaboration with the Communications department at UPO<\/p>\n [\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":" Scientific advancesPioneering research led by S\u00e1nchez \u00c1lcazar’s group opens up new therapeutic possibilities for neurodegeneration due to iron accumulation A collaborative translational study led by S\u00e1nchez \u00c1lcazar’s group and the […]<\/p>\n","protected":false},"author":2997,"featured_media":18995,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"categories":[160,184],"tags":[],"class_list":["post-21188","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-avances-cientificos","category-scientific-advances"],"_links":{"self":[{"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/posts\/21188","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/users\/2997"}],"replies":[{"embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/comments?post=21188"}],"version-history":[{"count":6,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/posts\/21188\/revisions"}],"predecessor-version":[{"id":26908,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/posts\/21188\/revisions\/26908"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/media\/18995"}],"wp:attachment":[{"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/media?parent=21188"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/categories?post=21188"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/tags?post=21188"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}