Publications by authors named "M J Hiltunen"
Genetic variants in TMEM106B, coding for a transmembrane protein of unknown function, have been identified as critical genetic modulators in various neurodegenerative diseases with a strong effect in patients with frontotemporal degeneration. The luminal domain of TMEM106B can form amyloid-like fibrils upon proteolysis. Whether this luminal domain is generated under physiological conditions and which protease(s) are involved in shedding remain unclear.
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- A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
- The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
- While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
Background: Patients with Alzheimer's disease (AD) frequently present with cerebral amyloid angiopathy (CAA), characterized by the accumulation of beta-amyloid (Aβ) within the cerebral blood vessels, leading to cerebrovascular dysfunction. Pericytes, which wrap around vascular capillaries, are crucial for regulating cerebral blood flow, angiogenesis, and vessel stability. Despite the known impact of vascular dysfunction on the progression of neurodegenerative diseases, the specific role of pericytes in AD pathology remains to be elucidated.
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- In Alzheimer's disease, amyloid beta (Aβ) triggers the cleavage of the TrkB-FL receptor, disrupting essential BDNF signaling that is crucial for neuron health and function.
- Researchers found that TrkB-FL cleavage occurs early in the disease and worsens with increased pathology, using human samples and cerebrospinal fluid for their studies.
- They developed a TAT-TrkB peptide that successfully prevents TrkB-FL cleavage, showing potential in improving cognitive function and synaptic issues in a mouse model of Alzheimer's, indicating it could be a safe and effective treatment option.