A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Bin CaiNing Wang

Abstract

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebral artery disease. The HtrA serine protease 1 (HTRA1) gene has been identified as the causative gene of CARASIL. Here, we report a novel mutation in the HTRA1 gene in a CARASIL pedigree and explore its pathogenesis at the protein level. Subcutaneous tissue biopsy and HTRA1 gene analysis were performed in a CARASIL patient, and HTRA1 and TGF-β1 protein expression in subcutaneous tissue and cultured fibroblasts from the proband were detected by immunohistochemistry and western blotting. A 28-year-old male proband and his brother experienced recurrent stroke, hair loss and low back pain. Abnormalities in the proband were found in the elastic plate of subcutaneous small arteries, and a novel homozygous frameshift mutation (c.161_162insAG), leading to the formation of a stop codon 159 amino acids downstream of the insertion (p.Gly56Alafs*160) was detected. Reduced HTRA1 protein and increased TGF-β1 expression were detected in subcutaneous tissue and in cultured fibroblasts. A frameshift mutation in the HTRA1 gene detected in a CARASIL pedigree resulted in reduced HTRA1 protein and increased TGF-β1 expressi...Continue Reading

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Citations

Mar 6, 2016·Journal of the Neurological Sciences·Toru TateokaHiroyuki Akagawa
Jun 14, 2018·Stroke; a Journal of Cerebral Circulation·Yi-Chung LeeYi-Chu Liao
Jul 21, 2017·Cellular and Molecular Life Sciences : CMLS·Åsa Fex SvenningsenEirikur Benedikz
Aug 7, 2017·CNS Neuroscience & Therapeutics·Ilaria Di DonatoMaria Teresa Dotti
Sep 6, 2019·International Journal of Molecular Sciences·Vo Van GiauSang Yun Kim
Jul 29, 2020·Frontiers in Neurology·Masahiro UemuraOsamu Onodera
May 26, 2018·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Junko ItoAkiyoshi Kakita
Oct 29, 2020·Chinese Medical Journal·Jing-Yi LiuMing Yao
May 23, 2020·Neurobiology of Disease·Rita GuerreiroJose Bras
Jul 17, 2021·Brain : a Journal of Neurology·Thibault CosteElisabeth Tournier-Lasserve

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