Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene

Takahashi, Manabu; Ozaki, Nobuaki; Nagashima, Shuichi; Wakabayashi, T.; Iwamoto, Sadahiko; Ishibashi, Shun

doi:10.1016/j.jacl.2021.04.013

Cited by 3 publications

(2 citation statements)

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“…Indeed, the ability to secrete apoB-48 is retained in some cases with MTTP mutations. Nonetheless, only a preserved apoB-48 secretion and fat/fat-soluble vitamin absorption were observed in this case 4,5) . Although the reasons for this discrepancy are unknown, we need to conduct a functional analysis assessing the MTTP functionality, in particular apoB-48 secretion capability.…”

Section: Genetic Analysesmentioning

confidence: 70%

“…MTTP physically interacts with apoB for lipid transfer 3) . To date, several case reports have presented ABL with MTTP gene mutation that lacked apoB-100 but had normal plasma apoB-48 concentrations 4,5) . The authors discussed possible mechanisms for the different levels of apoB-100 and apoB-48 as follows: an increased affinity of shorter apoB peptides for MTTP and the secretion of apoB-100 being more sensitive to MTTP activity than apoB-48.…”

Section: Introductionmentioning

confidence: 99%

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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

Sasaki,

Tada,

Komatsu

et al. 2024

JAT

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Abetalipoproteinemia (ABL) is a rare disease characterized by extremely low apolipoprotein B (apoB)containing lipoprotein levels, dietary fat, and fat-soluble vitamin malabsorption, leading to gastrointestinal, neuromuscular, and ophthalmological symptoms. We herein report a case of ABL with novel compound heterozygous mutations in the microsomal triglyceride transfer protein gene (c.1686_1687del [p. Ser563TyrfsTer10] and c.1862T>C [p.Ile621Thr]), identified via panel sequencing. Although the patient had extremely reduced low-density lipoprotein cholesterol levels and a fatty liver, he did not exhibit other typical complications. Furthermore, unlike typical ABL, this patient had a preserved apoB-48 secretion and increased concentrations of high-density lipoprotein cholesterol, which may account for the normal serum fat-soluble vitamin levels.

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Section: Genetic Analysesmentioning

confidence: 70%