{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:35:44Z","timestamp":1790742944880,"version":"4.1.0"},"reference-count":101,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T00:00:00Z","timestamp":1713398400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T00:00:00Z","timestamp":1713398400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["acta neuropathol commun"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Helsmoortel\u2013Van der Aa syndrome is a neurodevelopmental disorder in which patients present with autism, intellectual disability, and frequent extra-neurological features such as feeding and gastrointestinal problems, visual impairments, and cardiac abnormalities. All patients exhibit heterozygous de novo nonsense or frameshift stop mutations in the <jats:italic>Activity-Dependent Neuroprotective Protein<\/jats:italic> (<jats:italic>ADNP<\/jats:italic>) gene, accounting for a prevalence of 0.2% of all autism cases worldwide. ADNP fulfills an essential chromatin remodeling function during brain development. In this study, we investigated the cerebellum of a died 6-year-old male patient with the c.1676dupA\/p.His559Glnfs*3 <jats:italic>ADNP<\/jats:italic> mutation.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The clinical presentation of the patient was representative of the Helsmoortel\u2013Van der Aa syndrome. During his lifespan, he underwent two liver transplantations after which the child died because of multiple organ failure. An autopsy was performed, and various tissue samples were taken for further analysis. We performed a molecular characterization of the cerebellum, a brain region involved in motor coordination, known for its highest ADNP expression and compared it to an age-matched control subject. Importantly, epigenome-wide analysis of the ADNP cerebellum identified CpG\u00a0methylation differences and expression of multiple pathways causing neurodevelopmental delay. Interestingly, transcription factor motif enrichment analysis of differentially methylated genes showed that the <jats:italic>ADNP<\/jats:italic> binding motif was the most significantly enriched. RNA sequencing of the autopsy brain further identified downregulation of the WNT signaling pathway and autophagy defects as possible causes of neurodevelopmental delay. Ultimately, label-free quantification mass spectrometry identified differentially expressed proteins involved in mitochondrial stress and sirtuin signaling pathways amongst others. Protein\u2013protein interaction analysis further revealed a network including chromatin remodelers (ADNP, SMARCC2, HDAC2 and YY1), autophagy-related proteins (LAMP1, BECN1 and LC3) as well as a key histone deacetylating enzyme SIRT1, involved in mitochondrial energy metabolism. The protein interaction of ADNP with SIRT1 was further biochemically validated through the microtubule-end binding proteins EB1\/EB3 by direct co-immunoprecipitation in mouse cerebellum, suggesting important mito-epigenetic crosstalk between chromatin remodeling and mitochondrial energy metabolism linked to autophagy stress responses. This is further supported by mitochondrial activity assays and stainings in patient-derived fibroblasts which suggest mitochondrial dysfunctions in the ADNP deficient human brain.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This study forms the baseline clinical and molecular characterization of an ADNP autopsy cerebellum, providing novel insights in the disease mechanisms of the Helsmoortel\u2013Van der Aa syndrome. By combining multi-omic and biochemical approaches, we identified a novel SIRT1-EB1\/EB3-ADNP protein complex which may contribute to autophagic flux alterations and impaired mitochondrial metabolism in the Helsmoortel\u2013Van der Aa syndrome and holds promise as a new therapeutic target.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Graphical abstract<\/jats:title>\n                \n              <\/jats:sec>","DOI":"10.1186\/s40478-024-01743-w","type":"journal-article","created":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T13:02:50Z","timestamp":1713445370000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel\u2013Van der Aa syndrome autopsy case"],"prefix":"10.1186","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1888-9066","authenticated-orcid":false,"given":"Claudio","family":"D\u2019Incal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6713-2943","authenticated-orcid":false,"given":"Anke","family":"Van Dijck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9728-5273","authenticated-orcid":false,"given":"Joe","family":"Ibrahim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"De Man","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Bastini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Konings","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Elinck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Theys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Illana","family":"Gozes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zlatko","family":"Marusic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirna","family":"Anicic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jurica","family":"Vukovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Van der Aa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ligia","family":"Mateiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim","family":"Vanden Berghe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. 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The cerebellar tissue of a died nine-year-old child was a kind gift from the Institute Born-Bunge vzw IBB NeuroBioBank of the University of Antwerp under HMTA20210040 by the Ethics Committee of the Hospital Network Antwerp (ZNA) Middelheim and HogeBeuken, Antwerp, Belgium. Clinical information of a died six-year-old male carrying the heterozygous c.1676dupA\/p.His559Glnfs*3 ADNP mutation was received under informed consent of the parents under B300201627322 and approved by the Ethics Committee of the Antwerp University Hospital, Antwerp, Belgium. HEK293T cells were purchased from ATCC at a low passage number with consistent use of cells below a passage number of 15. LCLs were generated from peripheral blood lymphocytes donated by consenting patients and guardians\/physicians in the laboratory of Frank Kooy. Immortalized skin fibroblasts were generated by consenting patients and guardians\/physicians in the laboratory of Frank Kooy.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"An written informed consent under for publication died six-year-old male carrying the heterozygous c.1676dupA\/p.His559Glnfs*3 ADNP mutation was received by the mother (caregiver) and gives permission to the medical doctors of the Department of Medical Genetics, University Hospital Antwerp, to use photographs, biopsies and\/or X-rays for medical reasons (discussion between colleagues, teaching, or publication in scientific papers). The Institute Born-Bunge vzw IBB NeuroBioBank of the University of Antwerp acknowledges publication in all oral presentations, written or press related releases related to the use of the cerebellar tissue of a died nine-year-old female. All patient-derived cell lines were obtained under a written informed consent for publication by the patients, their guardians, and the tending clinicians.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"We confirm that this study is reported in accordance with the ARRIVE guidelines ().","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Accordance to ARRIVE guidelines"}},{"value":"Professor Dr. Em. Illana Gozes serves as VP drug development at ExoNavis Therapeutics LTD, clinically developing Davunetide.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"62"}}