Aldehyde degradation deficiency (ADD) syndrome: discovery of a novel fanconi anemia-like inherited BMF syndrome due to combined ADH5/ALDH2 deficiency

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  • MU Anfeng
    Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Graduate School of Biostudies, Kyoto University
  • HIRA Asuka
    Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Graduate School of Biostudies, Kyoto University
  • MATSUO Keitaro
    Division of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute
  • TAKATA Minoru
    Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Graduate School of Biostudies, Kyoto University

Bibliographic Information

Other Title
  • Aldehyde degradation deficiency（ADD）症候群
  • Aldehyde degradation deficiency (ADD)症候群 : アルデヒド代謝酵素欠損によるファンコニ貧血症類似の新たな遺伝性骨髄不全症候群の発見
  • Aldehyde degradation deficiency (ADD)ショウコウグン : アルデヒド タイシャ コウソ ケッソン ニ ヨル ファンコニ ヒンケツショウ ルイジ ノ アラタ ナ イデンセイ コツズイ フゼン ショウコウグン ノ ハッケン
  • —アルデヒド代謝酵素欠損によるファンコニ貧血症類似の新たな遺伝性骨髄不全症候群の発見—

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<p>We have recently described the identification of a novel inherited bone marrow failure syndrome. The first set of patients was diagnosed through the exome analysis of cells from Japanese patients with hypoplastic anemia, which have been deposited to the JCRB cell bank for quite some time previously. Originally, these cases were diagnosed with a novel disorder based on increased levels of sister chromatid exchanges in lymphocytes; however, causative genes were clarified only after applying the recently developed next-generation sequencing technology. Aldehyde degradation deficiency syndrome (ADDS) is caused by combined defects in two genes, ADH5 and ALDH2, which are both critical for degrading endogenously generated formaldehyde. Formaldehyde is highly reactive and toxic to biological molecules including DNA, and its endogenous generation in the absence of the degradation system results in DNA damage that overwhelms the DNA repair capacity, leading to the development of BMF with loss of hematopoietic stem cells and progression to MDS/leukemia. In this short review, we would like to summarize what is known today about ADDS for a wide readership of hematology clinicians in Japan.</p>

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 62 (6), 547-553, 2021

    The Japanese Society of Hematology

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