Novel missense MTTP gene mutations causing abetalipoproteinemia
نویسندگان
چکیده
منابع مشابه
Novel Missense Mitochondrial ND4L Gene Mutations in Friedreich's Ataxia
Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...
متن کاملMolecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly and secretion of apolipoprotein B-containing lipoproteins caused by mutations in the microsomal triglyceride transfer protein large subunit (MTP) gene (MTTP). We report here a female patient with an unusual clinical and biochemical ABL phenotype. She presented with severe liver injury, low levels of LDL-c...
متن کاملNovel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.
Abetalipoproteinemia (ABL) is an inherited disease characterized by the virtual absence of apolipoprotein B (apoB)-containing lipoproteins from plasma. Only limited numbers of families have been screened for mutations in the microsomal triglyceride transfer protein (MTP) gene. To clarify the genetic basis of clinical diversity of ABL, mutations of the MTP gene have been screened in 4 unrelated ...
متن کاملMolecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene
BACKGROUND Abetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB). ABL results from genetic deficiency in microsomal triglyceride transfer protein (MTP; OMIM 157147). In the present study we investi...
متن کاملA severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).
Abetalipoproteinemia is a rare autosomal recessive disease characterized by low lipid levels and by the absence of apoB-containing lipoproteins. It is the consequence of microsomal triglyceride transfer protein (MTTP) deficiency. We report two patients with new MTTP mutations. We studied their functional consequences on the triglyceride transfer function using duodenal biopsies. We transfected ...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
سال: 2014
ISSN: 1388-1981
DOI: 10.1016/j.bbalip.2014.08.001