Last update 21 Mar 2024
Sitosterolemia
Last update 21 Mar 2024
Basic Info
Synonyms PHYTOSTEROLEMIA, Phytosterolaemia, Phytosterolemia + [21] |
Introduction An extremely rare autosomal recessive inherited disorder caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by a defective sterolin transporter that impairs the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the tissues including arteries and skin, resulting in atherosclerosis and xanthomas. |
Related
Target |
Mechanism |
Active Org. |
Originator Org. |
Active Indication |
Inactive Indication |
Drug Highest Phase |
First Approval Ctry. / Loc. |
First Approval Date |
空腹：北京亚宝生物药业有限公司研制的依折麦布片与MSD PHARMA(Singapore) Pte. Ltd.持证的Ezetrol/益适纯®在健康受试者中进行的单中心、随机、开放、两制剂、空腹、单次给药、两周期、双交叉生物等效性研究
餐后：北京亚宝生物药业有限公司研制的依折麦布片与MSD PHARMA(Singapore) Pte. Ltd.持证的Ezetrol/益适纯®在健康受试者中进行的单中心、随机、开放、两制剂、餐后、单次给药、三序列、三周期、部分重复交叉生物等效性研究
[Translation] Fasting: A single-center, randomized, open-label study of ezetimibe tablets developed by Beijing Yabao Biopharmaceutical Co., Ltd. and Ezetrol/Ezetrol® licensed by MSD PHARMA (Singapore) Pte. Ltd. was conducted in healthy subjects. , two-preparation, fasting, single-dose, two-cycle, double-crossover bioequivalence study
After meal: A single-center, randomized, randomized controlled trial of Ezetrol/Ezetrol® licensed by MSD PHARMA (Singapore) Pte. Ltd., developed by Beijing Yabao Biopharmaceutical Co., Ltd. Open-label, two-formulation, prandial, single-dose, three-sequence, three-cycle, partially replicated crossover bioequivalence study
依折麦布片在空腹条件下的人体生物等效性试验
[Translation] Human Bioequivalence Test of Ezetimibe Tablets under Fasting Condition
依折麦布片在餐后条件下的人体生物等效性试验
[Translation] Human Bioequivalence Test of Ezetimibe Tablets under Postprandial Conditions
100 Clinical Results associated with Sitosterolemia
Login to view more data
100 Translational Medicine associated with Sitosterolemia
Login to view more data
Login to view more data
01 Jan 2024Advances in experimental medicine and biology
Association of ABCG5 and ABCG8 Transporters with Sitosterolemia.
Review
Author: Sergio Paulo Bydlowski ; Debora Levy
Sitosterolemia is a rare genetic lipid disorder, mainly characterized by the accumulation of dietary xenosterols in plasma and tissues. It is caused by inactivating mutations in either ABCG5 or ABCG8 subunits, a subfamily-G ATP-binding cassette (ABCG) transporters. ABCG5/G8 encodes a pair of ABC half transporters that form a heterodimer (G5G8). This heterodimeric ATP-binding cassette (ABC) sterol transporter, ABCG5/G8, is responsible for the hepatobiliary and transintestinal secretion of cholesterol and dietary plant sterols to the surface of hepatocytes and enterocytes, promoting the secretion of cholesterol and xenosterols into the bile and the intestinal lumen. In this way, ABCG5/G8 function in the reverse cholesterol transport pathway and mediate the efflux of cholesterol and xenosterols to high-density lipoprotein and bile salt micelles, respectively. Here, we review the biological characteristics and function of ABCG5/G8, and how the mutations of ABCG5/G8 can cause sitosterolemia, a loss-of-function disorder characterized by plant sterol accumulation and premature atherosclerosis, among other features.
01 Jan 2024Journal of lipid and atherosclerosis
Putative Pathogenic Variants of ABCG5 and ABCG8 of Sitosterolemia in Patients With Hyper-Low-Density Lipoprotein Cholesterolemia.
Article
Author: Nobuko Kojima ; Hayato Tada ; Akihiro Nomura ; Soichiro Usui ; Kenji Sakata ; Kenshi Hayashi ; Atsushi Nohara ; Akihiro Inazu ; Masa-Aki Kawashiri ; Masayuki Takamura
Objective:
Sitosterolemia is a rare autosomal recessive disease caused by the deleterious variants of adenosine 5'-triphosphate (ATP)-binding cassette sub-family G member 5 (ABCG5) or ATP-binding cassette sub-family G member 8 (ABCG8). There are only few data on the pathogenicity of ABCG5 and ABCG8. This study aimed to propose a scheme for determining variant pathogenicity and to catalog the putative pathogenic variants in sitosterolemia.
Methods:
This study enrolled 377 consecutive Japanese patients with hyper-low-density lipoprotein cholesterolemia (mean age: 46.5±19.8 years, with 192 men) who have targeted-sequenced data on ABCG5 or ABCG8 (among 21 Mendelian lipid genes for any dyslipidemias) and serum sitosterol levels at Kanazawa University Hospital from 2016 to 2021. Serum sitosterol levels were divided by 0.79 in patients treated with ezetimibe, accounting for the average reduction with this drug. ABCG5 or ABCG8 variants were defined as putative pathogenic if associated with serum sitosterol levels ≥5 µg/mL or homozygous if associated with serum sitosterol levels ≥10 µg/mL.
Results:
Twenty-three ABCG5 or ABCG8 variants (16 missense, 2 nonsense, 2 frameshift, 2 deletion, and 1 splice mutation) were identified. Based on our definition, 11 putative pathogenic variants (median sitosterol level: 10.1 [6.5-17.1] µg/mL) were found in 36 individuals and 12 benign variants (median sitosterol: 3.5 [2.5-4.1] µg/mL) in 14 individuals.
Conclusion:
The scheme proposed for assessing the pathogenicity of genetic variations (ABCG5 and ABCG8) is useful. Using this scheme, 11 putative pathogenic, and 12 benign variants in ABCG5 or ABCG were classified.
01 Nov 2023EJHaem
Connecting the dots: Xanthoma, haemolytic anaemia, stomatocytosis and macrothrombocytopenia point to phytosterolaemia.
Article
Author: Jean-Baptiste Rieu ; Thibaut Jamme ; Léonardo Astudillo ; Lamisse Mansour-Hendili ; Thierry Levade ; Pierre Cougoul
Analysis
Perform a panoramic analysis of this field.
login
or
Get started for free today!
Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.
Start your data trial now!
Synapse data is also accessible to external entities via APIs or data packages. Leverages most recent intelligence information, enabling fullest potential.
Bio
Bio Sequences Search & Analysis
Sign up for free
Chemical
Chemical Structures Search & Analysis
Sign up for free