{"id":18935,"date":"2025-03-18T12:58:52","date_gmt":"2025-03-18T11:58:52","guid":{"rendered":"https:\/\/cabd.es\/new-therapeutic-approach-discovered-for-the-neurodegenerative-disease-bpan\/"},"modified":"2026-06-10T15:22:34","modified_gmt":"2026-06-10T14:22:34","slug":"new-therapeutic-approach-discovered-for-the-neurodegenerative-disease-bpan","status":"publish","type":"post","link":"https:\/\/cabd.es\/en\/new-therapeutic-approach-discovered-for-the-neurodegenerative-disease-bpan\/","title":{"rendered":"New therapeutic approach discovered for the neurodegenerative disease BPAN"},"content":{"rendered":"<p>[et_pb_section bb_built=&#8221;1&#8243; admin_label=&#8221;Hero&#8221; fullwidth=&#8221;on&#8221; disabled_on=&#8221;off|off|off&#8221; _builder_version=&#8221;4.27.6&#8243; background_color=&#8221;#1f1f1f&#8221; parallax=&#8221;on&#8221; custom_padding=&#8221;|||&#8221; transparent_background=&#8221;on&#8221; global_colors_info=&#8221;{}&#8221; next_background_color=&#8221;#ffffff&#8221;][et_pb_fullwidth_header background_overlay_color=&#8221;rgba(31,31,31,0.56)&#8221; 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content_ul_text_shadow_vertical_length=&#8221;content_ul_text_shadow_style,%91object Object%93&#8243; content_ul_text_shadow_blur_strength=&#8221;content_ul_text_shadow_style,%91object Object%93&#8243; content_ol_text_shadow_horizontal_length=&#8221;content_ol_text_shadow_style,%91object Object%93&#8243; content_ol_text_shadow_vertical_length=&#8221;content_ol_text_shadow_style,%91object Object%93&#8243; content_ol_text_shadow_blur_strength=&#8221;content_ol_text_shadow_style,%91object Object%93&#8243; content_quote_text_shadow_horizontal_length=&#8221;content_quote_text_shadow_style,%91object Object%93&#8243; content_quote_text_shadow_vertical_length=&#8221;content_quote_text_shadow_style,%91object Object%93&#8243; content_quote_text_shadow_blur_strength=&#8221;content_quote_text_shadow_style,%91object Object%93&#8243; subhead_text_shadow_horizontal_length=&#8221;subhead_text_shadow_style,%91object Object%93&#8243; subhead_text_shadow_vertical_length=&#8221;subhead_text_shadow_style,%91object Object%93&#8243; subhead_text_shadow_blur_strength=&#8221;subhead_text_shadow_style,%91object Object%93&#8243; button_one_text_shadow_horizontal_length=&#8221;button_one_text_shadow_style,%91object Object%93&#8243; button_one_text_shadow_vertical_length=&#8221;button_one_text_shadow_style,%91object Object%93&#8243; button_one_text_shadow_blur_strength=&#8221;button_one_text_shadow_style,%91object Object%93&#8243; button_two_text_shadow_horizontal_length=&#8221;button_two_text_shadow_style,%91object Object%93&#8243; button_two_text_shadow_vertical_length=&#8221;button_two_text_shadow_style,%91object Object%93&#8243; button_two_text_shadow_blur_strength=&#8221;button_two_text_shadow_style,%91object Object%93&#8243;]<\/p>\n<p style=\"text-align: left;\">Scientific advances<\/p>\n<h1>New therapeutic approach discovered for the neurodegenerative disease BPAN<\/h1>\n<p>[\/et_pb_fullwidth_header][\/et_pb_section][et_pb_section bb_built=&#8221;1&#8243; _builder_version=&#8221;4.16&#8243; global_colors_info=&#8221;{}&#8221; prev_background_color=&#8221;#1f1f1f&#8221;][et_pb_row _builder_version=&#8221;4.16&#8243; background_size=&#8221;initial&#8221; background_position=&#8221;top_left&#8221; background_repeat=&#8221;repeat&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.16&#8243; custom_padding=&#8221;|||&#8221; global_colors_info=&#8221;{}&#8221; custom_padding__hover=&#8221;|||&#8221;][et_pb_text _builder_version=&#8221;4.27.6&#8243; vertical_offset_tablet=&#8221;0&#8243; horizontal_offset_tablet=&#8221;0&#8243; hover_enabled=&#8221;0&#8243; z_index_tablet=&#8221;0&#8243; text_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; text_text_shadow_vertical_length_tablet=&#8221;0px&#8221; text_text_shadow_blur_strength_tablet=&#8221;1px&#8221; link_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; link_text_shadow_vertical_length_tablet=&#8221;0px&#8221; link_text_shadow_blur_strength_tablet=&#8221;1px&#8221; ul_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; ul_text_shadow_vertical_length_tablet=&#8221;0px&#8221; ul_text_shadow_blur_strength_tablet=&#8221;1px&#8221; ol_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; ol_text_shadow_vertical_length_tablet=&#8221;0px&#8221; ol_text_shadow_blur_strength_tablet=&#8221;1px&#8221; quote_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; quote_text_shadow_vertical_length_tablet=&#8221;0px&#8221; quote_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_2_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_2_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_2_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_3_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_3_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_3_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_4_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_4_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_4_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_5_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_5_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_5_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_6_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_6_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_6_text_shadow_blur_strength_tablet=&#8221;1px&#8221; box_shadow_horizontal_tablet=&#8221;0px&#8221; box_shadow_vertical_tablet=&#8221;0px&#8221; box_shadow_blur_tablet=&#8221;40px&#8221; box_shadow_spread_tablet=&#8221;0px&#8221; global_colors_info=&#8221;{}&#8221; _module_preset=&#8221;dc6ab383-11a3-454b-8ba1-6554be6042b4&#8243; sticky_enabled=&#8221;0&#8243;]<\/p>\n<p>The study, carried out by a research team from the Andalusian Center for Developmental Biology, shows that biotin reactivates the inactive X chromosome and improves cell functions in models of this disease \/ The research opens new perspectives for other X-linked diseases.<img decoding=\"async\" class=\"wp-image-18926 aligncenter lazyload\" data-src=\"https:\/\/cabd.es\/wp-content\/uploads\/2026\/03\/a7c92296-8133-4353-a1aa-1b65ceeda857.jpg\" alt=\"\" width=\"546\" height=\"351\" data-srcset=\"https:\/\/cabd.es\/wp-content\/uploads\/2026\/03\/a7c92296-8133-4353-a1aa-1b65ceeda857.jpg 546w, https:\/\/cabd.es\/wp-content\/uploads\/2026\/03\/a7c92296-8133-4353-a1aa-1b65ceeda857-480x308.jpg 480w\" data-sizes=\"(min-width: 0px) and (max-width: 480px) 480px, (min-width: 481px) 546px, 100vw\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 546px; --smush-placeholder-aspect-ratio: 546\/351;\" \/><\/p>\n<p>A research team from the Andalusian Center for Developmental Biology (CABD) has identified an innovative mechanism that could open new therapeutic avenues for the neurodegenerative disease BPAN (Beta-Propeller Protein-Associated Neurodegeneration). The study, led by Professor of Cell Biology at Pablo de Olavide University Jos\u00e9 Antonio S\u00e1nchez Alc\u00e1zar and published in the International Journal of Molecular Sciences, shows that biotin, a nutrient with epigenetic properties, can reactivate the inactive X chromosome and restore altered cell functions in models of this disease.<\/p>\n<p><img decoding=\"async\" class=\"wp-image-18932 aligncenter lazyload\" data-src=\"https:\/\/cabd.es\/wp-content\/uploads\/2026\/03\/grupo_sanchez_alzazar.jpg\" alt=\"\" width=\"629\" height=\"511\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 629px; --smush-placeholder-aspect-ratio: 629\/511;\" \/><\/p>\n<p><em>From above, from left to right, Diana Reche L\u00f3pez, Paula Cilleros Holgado, Alejandra L\u00f3pez Cabrera y Jos\u00e9 Manuel Romero Dom\u00ednguez. Abajo, de izquierda a derecha, David G\u00f3mez Fern\u00e1ndez, Ana Romero Gonz\u00e1lez, Raquel Garc\u00eda-Salas, Jos\u00e9 Antonio S\u00e1nchez Alc\u00e1zar, M\u00f3nica \u00c1lvarez C\u00f3rdoba y Roc\u00edo Pi\u00f1ero P\u00e9rez. Author: JM Ramos_fotograf\u00edas<\/em><\/p>\n<p>BPAN is a rare X-linked genetic disorder that causes an abnormal accumulation of iron in the brain and severely affects the nervous system. Its symptoms include recurrent seizures, intellectual disability, developmental delay, ataxia and parkinsonism. Currently, there is no curative treatment, and the available options only partially alleviate the symptoms.<\/p>\n<p><strong>Reactivating the X chromosome to restore cellular functions<\/strong><\/p>\n<p>The CABD team has discovered that biotin is able to restore the expression of the WDR45 gene, whose mutation causes the disease. This process occurs through histone biotinylation, an epigenetic mechanism that favors the reactivation of the inactive X chromosome, allowing the functional allele of the gene to be expressed again. The results show a remarkable improvement in iron homeostasis, mitochondrial bioenergetics and the autophagic capacity of the cells, key aspects in the development of BPAN.<\/p>\n<p>&nbsp;<\/p>\n<p><img decoding=\"async\" class=\"alignnone wp-image-18930 lazyload\" data-src=\"https:\/\/cabd.es\/wp-content\/uploads\/2026\/03\/GRAPHICAL-ABSTRACT-BPAN2-espanol.jpg\" alt=\"\" width=\"531\" height=\"398\" data-srcset=\"https:\/\/cabd.es\/wp-content\/uploads\/2026\/03\/GRAPHICAL-ABSTRACT-BPAN2-espanol.jpg 531w, https:\/\/cabd.es\/wp-content\/uploads\/2026\/03\/GRAPHICAL-ABSTRACT-BPAN2-espanol-480x360.jpg 480w\" data-sizes=\"(min-width: 0px) and (max-width: 480px) 480px, (min-width: 481px) 531px, 100vw\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 531px; --smush-placeholder-aspect-ratio: 531\/398;\" \/><\/p>\n<p><em>Biotin induces reactivation of the inactive X chromosome and corrects pathophysiological alterations in beta-helix protein-associated neurodegeneration<\/em><\/p>\n<p>According to Dr. S\u00e1nchez Alc\u00e1zar, \u201cour results indicate that reactivation of the inactive X chromosome not only represents a new therapeutic avenue for BPAN, but could also be applied to other genetic diseases linked to this chromosome, such as Rett syndrome or Fragile X syndrome\u201d.<\/p>\n<p>The research has been possible thanks to the support of patient associations such as &#8216;Camina con Lola&#8217;, &#8216;Gabriella mi peque\u00f1a guerrera&#8217; and &#8216;BPAN Spain&#8217;, as well as the Fundaci\u00f3n Bancaria Unicaja.<\/p>\n<p><strong>Another step forward in personalized medicine<\/strong><\/p>\n<p>This finding is part of the BrainCure Project, an initiative that since 2014 has been committed to personalized medicine for neurodegenerative diseases with iron accumulation. The team evaluates treatments in patient-derived cellular models, allowing the most effective options to be selected prior to their possible clinical application. Currently, this approach is being used with more than 40 patients from different countries, including Spain, Brazil, Mexico and the United States.<\/p>\n<p>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<p>Reference:<\/p>\n<p>Reche-L\u00f3pez D, Romero-Gonz\u00e1lez A, \u00c1lvarez-C\u00f3rdoba M, Su\u00e1rez-Carrillo A, Cilleros-Holgado P, Pi\u00f1ero-P\u00e9rez R, G\u00f3mez-Fern\u00e1ndez D, Romero-Dom\u00ednguez JM, L\u00f3pez-Cabrera A, Gonz\u00e1lez-Granero S, Garc\u00eda-Verdugo JM, S\u00e1nchez-Alc\u00e1zar JA.\u00a0<strong>Biotin Induces Inactive Chromosome X Reactivation and Corrects Physiopathological Alterations in Beta-Propeller-Protein-Associated Neurodegeneration<\/strong>. Int. J. Mol. Sci.\u00a0 2025.\u00a0\u00a0<a href=\"https:\/\/doi.org\/10.3390\/ijms26031315\">doi: 10.3390\/ijms26031315<\/a><\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Scientific advancesNew therapeutic approach discovered for the neurodegenerative disease BPAN The study, carried out by a research team from the Andalusian Center for Developmental Biology, shows that biotin reactivates the [&hellip;]<\/p>\n","protected":false},"author":2999,"featured_media":18927,"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":[184],"tags":[],"class_list":["post-18935","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-scientific-advances"],"_links":{"self":[{"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/posts\/18935","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\/2999"}],"replies":[{"embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/comments?post=18935"}],"version-history":[{"count":7,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/posts\/18935\/revisions"}],"predecessor-version":[{"id":26839,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/posts\/18935\/revisions\/26839"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/media\/18927"}],"wp:attachment":[{"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/media?parent=18935"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/categories?post=18935"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/tags?post=18935"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}