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Abstracts from the 9Th Biennial Scientific Meeting of The International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):15 DOI 10.1186/s13633-017-0054-x MEETING ABSTRACTS Open Access Abstracts from the 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society (APPES) and the 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE) Tokyo, Japan. 17-20 November 2016 Published: 28 Dec 2017 PS1 Heritable forms of primary bone fragility in children typically lead to Fat fate and disease - from science to global policy a clinical diagnosis of either osteogenesis imperfecta (OI) or juvenile Peter Gluckman osteoporosis (JO). OI is usually caused by dominant mutations affect- Office of Chief Science Advsor to the Prime Minister ing one of the two genes that code for two collagen type I, but a re- International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):PS1 cessive form of OI is present in 5-10% of individuals with a clinical diagnosis of OI. Most of the involved genes code for proteins that Attempts to deal with the obesity epidemic based solely on adult be- play a role in the processing of collagen type I protein (BMP1, havioural change have been rather disappointing. Indeed the evidence CREB3L1, CRTAP, LEPRE1, P4HB, PPIB, FKBP10, PLOD2, SERPINF1, that biological, developmental and contextual factors are operating SERPINH1, SEC24D, SPARC, from the earliest stages in development and indeed across generations TMEM38B), or interfere with osteoblast function (SP7, WNT1). Specific is compelling. The marked individual differences in the sensitivity to the phenotypes are caused by mutations in SERPINF1 (recessive OI type obesogenic environment need to be understood at both the individual VI), P4HB (Cole-Carpenter syndrome) and SEC24D (‘Cole-Carpenter and population level. There is considerable evidence showing that the like’). Patients with heritable bone fragility who do not have extraske- fetus and neonate are affected by the environment created by its letal manifestations of OI are often diagnosed with JO. The JO mother and these have longer-term metabolic consequences including phenotype can be caused by mutations in LRP5 and PLS3, but also obesity and the implications for non-communicable disease (NCD). But by mutations in some of the genes that cause OI. For most of these while this evidence emerged over 30 years ago, it is only in the past 5 gene defects the mechanisms linking mutation to phenotype remain years it has gained traction in the policy domain. A number of barriers, to be elucidated. Regarding specific medical therapy of bone fragility both scientific and societal, existed to the incorporation of this know- in children, bisphosphonates are currently the main treatment op- ledge into public policy. These barriers included an over-simplistic un- tion. Recent data indicate that children with moderate to severe OI derstanding of the phenomenon, a failure to appreciate its normative have the ability to reshape most compressed vertebra, if treatment is nature and multiple mechanisms that are best understood in a evolu- started early enough and is continued throughout the growing tionary medicine context, a lack of compelling biological mechanistic period. However, bisphosphonate therapy does not have a major ef- explanations and estimates of the size of the developmental compo- fect on the development of scoliosis and the incidence of long- bone nent. These issues have largely been addressed to the extent needed fractures remains elevated. Even though children with moderate OI for policy recommendations although there are areas of research that (OI type IV) typically achieve independent ambulation, this is rarely need further promotion – in particular those related to the develop- the case for children with severe OI (OI type III). Newer medications ment of eating behaviours and satiety control. However in part because are being evaluated in an attempt to improve on the therapeutic effi- of the Millennium Development Goals that brought an emphasis to ma- cacy of bisphosphonates but the available information about their ternal and girls’ health and because of scientific progress as reflected in action in OI is very limited at present. the “ first 1000 days” movement, the first recognition of the develop- mental and epigenetic component to obesity was noted in the political PS3 declaration of the UN General Assembly in 2011. This led the WHO and Unique Newly Discovered Muse Cells May Lead to the Paradigm an increasing number of governments to start to formulate develop- Shift of Stem Cell Therapy mental strategies to confront obesity. The World Health Assembly in Mari Dezawa May 2016 adopted the report of the Commission on Ending Childhood Department of Stem Cell Biology and History & Department of Anatomy Obesity and this has major implications for national and global health and Anthropology, Tohoku University Graduate School of Medicine policy. I will discuss these developments from both a scientific and pub- International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):PS3 lic policy perspective. Multilineage-differentiating stress enduring (Muse) cells are naturally PS2 existing unique stem cells that are non- tumorigenic and are Bone Fragility in Children - Genes and Treatments pluripotent-like because they can generate cells representative of all Frank Rauch three germ layers from a single cell, express pluripotency markers, Shriners Hospitals for Children and are able to self-renew and to spontaneously differentiate into International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):PS2 cells compatible to the tissue they homed in vivo after engraftment. © The Author(s). 2017 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):15 Page 2 of 144 Whenever they are injected intravenously, they can escape from be- growth disorders. Focused candidate gene testing is employed in ing trapped in the lung and spleen, unlike mesenchymal stem cells cases of distinct syndromes (i.e. Leri-Weill Dyschondrosteosis, Noonan (MSCs), and efficiently home into damaged tissue, suggesting that Syndrome, Russell Silver Syndrome) or clear defects in the growth robust repair can be delivered by intravenous injection of naïve Muse hormone/IGF-I axis. We will first explore the role of candidate gene cells. Such unique functions of Muse cells were demonstrated in ani- testing in the evaluation of short stature and growth hormone mal models of stroke, partial hepatectomy, skin ulcer of diabetes deficiency. We will then turn to the use of genomic technologies mellitus and muscle degeneration. They do not have to be “induced,” including whole exome sequencing and chromosomal microarrays or genetically manipulated, to be pluripotent or be purposive cells be- for the identification of rare genetic sequence and copy number vari- fore transplantation as required with some other cell varieties - they ants underlying individual patient’s short stature. We will review a already display inherent pluripotent-like properties after isolation and, proposed algorithm for the diagnosis of growth disorders. with their acquired properties of purposive cells, Muse cells spontan- eously repair damaged sites based on their unique mechanisms. SY1-2 They can be collected as cells positive for SSEA-3, a surface marker Growth: New era of growth disorders for pluripotent stem cells, from readily accessible sources such as the IGF2 mutation in Silver-Russell syndrome bone marrow (~0.03% of the total mononucleated cell population), Thomas Eggermann and from cultured fibroblasts (several %), as well as from the dermis Institute of Human Genetics, University Hospital, Aachen Technical and adipose tissue. Thus, they are expected to be practical cells for International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):SY1-2 clinical application. Recently, Muse cells are shown to circulate in per- ipheral blood in healthy donors, and the number increases in stroke With the identification of 11p15.5 disturbances in Silver-Russell syn- patients in an acute phase, suggesting that endogenous Muse cells drome (SRS) ten years ago, the central role of at least the telomeric are mobilized into peripheral blood to repair tissues while their num- imprinted region ICR1 in 11p15.5 for the etiology of the disease be- ber is not sufficient to recover, and that supply of exogenous Muse came obvious. Two of the genes regulated by the ICR1 are IGF2 and cells is expected to deliver clinically relevant functional recovery. H19. Due to its physiological function and its imprinting status, IGF2 Overall, results suggest that Muse cells are a feasible and promising had been suggested as the causative gene for SRS, but the final clue source for cell-based approaches. was still missing. We recently identified a paternally inherited IGF2 mutation in a family with growth retardation and SRS, we could con- PS4 firm the hypothesis that IGF2 is the key factor for the growth retard- RASopathy
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