Up to 27% of individuals undergoing subthalamic nucleus deep brain stimulation (STN-DBS) have a genetic form of Parkinson's disease (PD). G () mutation carriers, compared to sporadic PD, present with a more aggressive disease, less asymmetry, and fare worse on cognitive outcomes with STN-DBS. Evaluating STN intra-operative local field potentials provide the opportunity to assess and compare symmetry between and non- mutation carriers with PD; thus, providing insight into genotype and STN physiology, and eligibility for and programming of STN-DBS. The purpose of this pilot study was to test differences in left and right STN resting state beta power in non- and mutation carriers with PD. STN (left and right) resting state local field potentials were recorded intraoperatively from 4 and 5 non- patients with PD while off medication. Peak beta power expressed as a ratio to total beta power (peak beta ratio) was compared between STN hemispheres and groups while co-varying for age, age of disease onset, and disease severity. Peak beta ratio was significantly different between the left and the right STN for the group ( < 0.01) but not the non- group ( = 0.56) after co-varying for age, age of disease onset, and disease severity. Peak beta ratio in mutation carriers was more asymmetric compared with non-mutation carriers and this corresponded with the degree of clinical asymmetry as measured by rating scales. This finding suggests that mutation carriers have a physiologic signature that is distinct from that found in sporadic PD.
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http://dx.doi.org/10.3389/fneur.2021.723476 | DOI Listing |
Int J Fertil Steril
January 2025
Clinical Pathology Department, Faculty of Medicine, Assiut University, Assiut, Egypt.
Background: Unexplained recurrent miscarriage (RM) is still an unsolved reproductive health problem. Inherited thrombophilias have been one of the causes. Mutation in genes encoding coagulation proteins, including prothrombin (PT G20210A) and methylenetetrahydrofolate reductase (MTHFR) genes, increase tendency for venous thromboembolism.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Senior Department of Gastroenterology, The First Medical Center of Chinese PLA General Hospital, Beijing, 100853, China.
Background: Lynch syndrome (LS)-associated colorectal cancer (CRC) always ascribes to pathogenic germline mutations in mismatch repair (MMR) genes. However, the penetrance of CRC varies among those with the same MMR gene mutation. Thus, we hypothesized that the gut microbiota is also involved in CRC development in LS families.
View Article and Find Full Text PDFAnn Allergy Asthma Immunol
January 2025
Children's Health Ireland (CHI) at Crumlin, Dublin D12 N512, Ireland. Electronic address:
Background: Loss-of-function FLG-mutation (FLGmut) carriers are at increased risk of developing atopic dermatitis (AD), characterized by earlier onset and more severe disease. AD is driven by a complex interplay between skin barrier function, Th2 and Th2 dominant immune dysregulation and dysbiosis. Results from the STOP AD study suggest two early, initiating AD-pathogenetic pathways; a FLGmut-related skin barrier deficiency pathway, and an immune function-related inflammatory pathway.
View Article and Find Full Text PDFClin Oral Implants Res
January 2025
Second Dental Center, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Objectives: WNT10A mutations are associated with tooth agenesis. This study aimed to assess the clinical outcomes of dental implants in patients carrying WNT10A mutations with different molecular statuses and phenotypes over a long-term follow-up period.
Materials And Methods: Patients with tooth agenesis were screened by whole-exome sequencing (WES) from January 2010 to September 2023.
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
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