A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the <i>MTTP</i> Gene without Fat or Vitamin Malabsorption-Reference-Cited by-同舟云学术

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A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the <i>MTTP</i> Gene without Fat or Vitamin Malabsorption

Published:2024 Issue: Volume: Page:
ISSN:1340-3478
Container-title:Journal of Atherosclerosis and Thrombosis
language:en
Short-container-title:JAT

Author:

Sasaki Kei¹²³,Tada Hayato⁴,Komatsu Tomohiro¹,Terada Hisato³,Endo Yasuhiro²,Ikewaki Katsunori²,Uehara Yoshinari¹

Affiliation:

1. Center for Preventive, Anti-aging and Regenerative Medicine, Fukuoka University Hospital

2. Division of Anti-aging and Vascular Medicine, Department of Internal Medicine, National Defense Medical College

3. Department of Internal Medicine, Self-Defense Forces Fukuoka Hospital

4. Department of Cardiology, Kanazawa University Graduate School of Medicine

Publisher

Japan Atherosclerosis Society

Link

https://www.jstage.jst.go.jp/article/jat/advpub/0/advpub_64730/_pdf

Reference17 articles.

1. 1) Takahashi M, Okazaki H, Ohashi K, Ogura M, Ishibashi S, Okazaki S, Hirayama S, Hori M, Matsuki K, Yokoyama S, Harada-Shiba M. Current Diagnosis and Management of Abetalipoproteinemia. J Atheroscler Thromb, 2021; 28: 1009-1019

2. 2) Young SG. Recent progress in understanding apolipoprotein B. Circulation, 1990; 82: 1574-1594

3. 3) Hussain MM, Bakillah A, Jamil H. Apolipoprotein B binding to microsomal triglyceride transfer protein decreases with increases in length and lipidation: implications in lipoprotein biosynthesis. Biochemistry, 1997; 36: 13060-13067

4. 4) Di Filippo M, Collardeau Frachon S, Janin A, Rajan S, Marmontel O, Decourt C, Rubio A, Nony S, Dumont S, Cuerq C, Charrière S, Moulin P, Lachaux A, Hussain MM, Bozon D, Peretti N. Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia. Atherosclerosis, 2019; 284: 75-82

5. 5) Takahashi M, Ozaki N, Nagashima S, Wakabayashi T, Iwamoto S, Ishibashi S. Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene. J Clin Lipidol, 2021; 15: 569-573

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