Publications by authors named "L C W Lit"
Article Synopsis
- - The study investigated how matrix metalloproteinase-2 (MMP-2) contributes to ligamentum flavum (LF) hypertrophy in a rat model and assessed the effects of elastin-derived peptides (EDPs) on MMP-2 and tissue inhibitors (TIMPs) in LF cells.
- - After inducing mechanical stress through surgery, researchers observed significant changes in LF structure, including increased thickness and cellular changes, alongside elevated MMP-2 and TIMP levels after 6 and 12 weeks.
- - EDPs were found to suppress MMP-2 expression and alter TIMP levels in isolated rat LF cells, highlighting a complex interaction where EDPs enhance the MMP-2/TIMPs
Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson's disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement of variants in the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase and is the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann-Pick disease types A and B.
View Article and Find Full Text PDFGenetic study of early-onset Parkinson's disease in the Malaysian population.
Parkinsonism Relat Disord
June 2023
Article Synopsis
- The study focuses on early onset Parkinson's disease (EOPD), which affects 5-10% of patients and is linked to genes like GBA1, PRKN, and PINK1, particularly in diverse populations such as Southeast Asians.
- Researchers examined 161 Malaysian patients with PD diagnosed before age 50, using genetic testing methods to identify pathogenic variants.
- Findings revealed that 21.7% of patients had significant genetic variants, with GBA1 being the most common, and highlighted the need for broader genetic research to include under-represented groups.
New insights from a multi-ethnic Asian progressive supranuclear palsy cohort.
Parkinsonism Relat Disord
March 2023
Background: Progressive supranuclear palsy (PSP) is a rare, disabling, neurodegenerative disease, with few studies done in Asian populations.
Methods: We prospectively characterized the clinical features and disease burden in a consecutively-recruited multi-ethnic Asian PSP cohort. Patients were extensively phenotyped using the Movement Disorder Society (MDS-PSP) clinical diagnostic criteria and the PSP-Clinical Deficits Scale (PSP-CDS).
Article Synopsis
- Gregor Mendel discovered how traits are passed down through generations in the 1860s, laying the groundwork for genetics.
- In the 1940s, scientists found that DNA carries genetic information, sparking huge advancements in genetics.
- Today, new technologies like genome editing are changing medicine and farming, and this review discusses how genetics can help create a better future for everyone.