Evaluation of the Genetic Background of Patients with Niemann-Pick Disease
CONCLUSIONS: In this study, disease-causing variants were identified in three probands suspected of Niemann-Pick disease. Such results show the relatively high power of molecular techniques to assist clinicians with disease management, therapeutic strategies, and preventive options such as preimplantation genetic diagnosis and prenatal diagnosis.PMID:38618260 | PMC:PMC11015928 | DOI:10.61186/rbmb.12.3.386 (Source: Mol Biol Cell)
Source: Mol Biol Cell - April 15, 2024 Category: Molecular Biology Authors: Fatemeh Alipouran Ehsan Ghayoor Karimiani Jina Khayatzadeh Source Type: research
Plasma neurofilament light chain is increased in Niemann-Pick Type C but glial fibrillary acidic protein remains normal
This study investigated biomarker levels and diagnostic utility of plasma neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) in NPC compared to healthy controls.METHODS: Patients with NPC were recruited from a specialist assessment and management service. Data was available from an age and sex-matched healthy control group. NfL and GFAP were measured on Quanterix Simoa HD-X analysers and groups compared using generalised linear models. NfL levels were compared to, and percentiles derived from, recently developed NfL reference ranges.RESULTS: Plasma NfL was significantly elevated in 11 patients with ...
Source: Acta Neuropsychiatrica - March 27, 2024 Category: Psychiatry Authors: Dhamidhu Eratne Courtney Lewis Wendy Kelso Samantha Loi Wei-Hsuan Michelle Chiu Kaj Blennow Henrik Zetterberg Alexander F Santillo Dennis Velakoulis Mark Walterfang Source Type: research
Familial Alzheimers disease associated with heterozygous NPC1 mutation
We describe a novel NPC1 heterozygous mutation harboured by different members of a family with autosomal dominant late-onset amnesic AD without NPC-associated features. A missense mutation in homozygous state in the same aminoacidic position has been previously reported in a patient with NPC with severe phenotype. The alteration of serum oxysterols in our family corroborates the pathogenic role of our NPC1 mutation. Our work, illustrating clinical and biochemical disease hallmarks associated with NPC1 heterozygosity in patients affected by AD, provides relevant insights into the pathogenetic mechanisms underlying this poss...
Source: Journal of Medical Genetics - March 21, 2024 Category: Genetics & Stem Cells Authors: Lopergolo, D., Bianchi, S., Gallus, G. N., Locci, S., Pucci, B., Leoni, V., Gasparini, D., Tardelli, E., Chincarini, A., Sestini, S., Santorelli, F. M., Zetterberg, H., De Stefano, N., Mignarri, A. Tags: Neurogenetics Source Type: research
Analyzing the causal relationship between lipid-lowering drug target genes and epilepsy: a Mendelian randomization study
ConclusionThe drug target MR investigation suggests a possible link between reduced epilepsy vulnerability and HMGCR and PCSK9 inhibition. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - March 8, 2024 Category: Neurology Source Type: research
Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C
Niemann –Pick type C (NPC) is a rare lysosomal storage disease characterized by hepatosplenomegaly and progressive neurological deterioration due to abnormal intracellular cholesterol transport. Cyclic oligosaccharide 2-hydroxypropyl-β-cyclodextrin (HPBCD) is an effective treatment for NPC; however, few reports have shown its long-term efficacy and safety. To demonstrate long-term efficacy and safety of intrathecal HPBCD (IT-HPBCD) treatment for NPC, we herein reports five patients with NPC treated using IT-HPBCD for 4–11 years. (Source: Brain and Development)
Source: Brain and Development - March 6, 2024 Category: Neurology Authors: Muneaki Matsuo, Takafumi Sakakibara, Yoshio Sakiyama, Tetsumin So, Motomichi Kosuga, Toshihiko Kakiuchi, Fumio Ichinose, Takuji Nakamura, Yoichi Ishitsuka, Tetsumi Irie Tags: Original Article Source Type: research
Repositioning of ezetimibe for the treatment of idiopathic pulmonary fibrosis
In conclusion, our study presents ezetimibe as a potential novel therapeutic for idiopathic pulmonary fibrosis.PMID:38359963 | DOI:10.1183/13993003.00580-2023 (Source: Respiratory Care)
Source: Respiratory Care - February 15, 2024 Category: Respiratory Medicine Authors: Chanho Lee Se Hyun Hyun Jisu Han Ju Hye Shin Byunghun Yoo Yu Seol Lee Jeong Su Park Beom Jin Lim Jin Gu Lee Young Sam Kim Song Yee Kim Soo Han Bae Source Type: research
Can NPC1L1 inhibitors reduce the risk of biliary tract cancer? Evidence from a mendelian randomization study
Oxysterols have been implicated in biliary tract cancer (BTC), and Niemann-Pick C1 –like 1 (NPC1L1) has been associated with oxysterol uptake in biliary and intestinal cells. Thus, our study aims to investigate the potential causal link between genetically proxied NPC1L1 inhibitors and the risk of BTC. (Source: Digestive and Liver Disease)
Source: Digestive and Liver Disease - February 10, 2024 Category: Gastroenterology Authors: Hao Dong, Rong Chen, Jiafeng Wang, Ningli Chai, Enqiang Linghu Tags: Oncology Source Type: research
Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature
Niemann-Pick Disease type C is a fatal autosomal recessive lipid storage disorder caused by NPC1 or NPC2 gene mutations and characterized by progressive, disabling neurological deterioration and hepatosplenomegal... (Source: BMC Infectious Diseases)
Source: BMC Infectious Diseases - January 30, 2024 Category: Infectious Diseases Authors: Chaoxin Tao, Min Zhao, Xiaohui Zhang, Jihong Hao, Qiuyue Huo, Jie Sun, Jiangtao Xing, Yuna Zhang, Jianhong Zhao and Huaipeng Huang Tags: Case Report Source Type: research
NPC1L1 rs217434 A & gt; G as a Novel Single Nucleotide Polymorphism Related to Dyslipidemia in a Korean Population
This study provided evidence for a relationship between the NPC1L1 rs217434 A > G genotype and dyslipidemia in the Korean population, which highlights the potential of the NPC1L1 rs217434 A > G genotype as an early predictor of dyslipidemia.PMID:38280151 | DOI:10.1007/s10528-023-10649-6 (Source: Biochemical Genetics)
Source: Biochemical Genetics - January 27, 2024 Category: Genetics & Stem Cells Authors: Dahyun Cho Ximei Huang Youngmin Han Minjoo Kim Source Type: research
