Publications by authors named "T H Massey"
Article Synopsis
- Huntington's disease is caused by a change in the HTT gene that makes a harmful protein, affecting brain function, especially in a part called the striatum.
- People with this disease can start having problems about 10 years after their brain begins to change, and other genes may affect how quickly symptoms appear.
- Right now, there are no treatments that can stop the disease, but scientists are researching ways to fix the gene and improve brain health using special cell therapies.
Background: Repeated sub-concussive head impacts are a growing brain health concern, but their possible biomarkers remain elusive. One impediment is the lack of a randomised controlled human experimental model to study their effects on the human brain.
Objectives: This work had two objectives.
Article Synopsis
- Huntington's disease (HD) is caused by a CAG repeat expansion and is part of a group of disorders linked to unstable short tandem repeats, highlighting the complexity of genetic influences on the disease.
- Research indicates that both overlapping and unique genetic modifiers affect clinical symptoms and somatic expansion in blood DNA, pointing to specific cell-type interactions in mismatch repair processes.
- The study identifies a 5'-UTR variant that causes somatic expansion without altering clinical HD, and a specific sequence change that accelerates motor symptom onset without increasing expansion, emphasizing potential therapeutic targets for managing HD.
Background: The study aimed to elucidate the prevalence of nitrous oxide (N2O) usage in patients with unexplained venous thromboembolism (VTE), highlighting the potential association with hyperhomocysteinaemia (HHcy).
Methods: We conducted a retrospective study at the Royal London Hospital, examining cases of N2O-related VTE from March to August 2023. Among 50 patients identified, four (8%) had recent unprovoked VTE.
Many Mendelian disorders, such as Huntington's disease (HD) and spinocerebellar ataxias, arise from expansions of CAG trinucleotide repeats. Despite the clear genetic causes, additional genetic factors may influence the rate of those monogenic disorders. Notably, genome-wide association studies discovered somewhat expected modifiers, particularly mismatch repair genes involved in the CAG repeat instability, impacting age at onset of HD.
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