With the specialization of biology, brain science, medical science, and IT/NT, KAIST has accumulated academic capability in the area of biology. The College of Life Science and Bioengineering was founded to efficiently support the fusion research environment of KI for Biocentury at KAIST.
The College of Life Science and Bioengineering is composed of the Department of Biological Sciences, Department of Bio & Brain Engineering, and Graduate School of Medical Science & Engineering. The college pursues multidisciplinary education & research in the area of biology and the development of modern science through the fusion of the IT & NT foundation techniques for the development of the nation’s biological science and technology.
The Department of Biological Sciences fosters scientists and engineers of life science and biotechnology equipped with creative research skills to lead in the development of science and technology in the area of biological sciences and excellent scientists equipped with future oriented thinking and a holistic personality.
The multidisciplinary Department of Bio & Brain Engineering fosters a creative workforce that is capable of creating new knowledge and techniques in the fusion areas of electronics, computers, and nanotechnology based on biomedical science.
The Graduate School of Medical Science & Engineering is catered to doctors (specialists), graduates from medical schools, dental schools, and schools of oriental medicine for the development of new medicine and medical devices. The Graduate School of Medical Science & Engineering was established with the purpose of developing life sciences and medical technology and fostering a high-quality workforce equipped with a multidisciplinary knowledge in basic medicine, life science, and biomedical engineering, as well as research experience.
Researchers have found a potential link between non-inherited somatic mutations in the brain and the progression of Alzheimer’s disease
Researchers have identified somatic mutations in the brain that could contribute to the development of Alzheimer’s disease (AD). Their findings were published in the journal Nature Communications last week.
Decades worth of research has identified inherited mutations that lead to early-onset familial AD. Inherited mutations, however, are behind at most half the cases of late onset sporadic AD, in which there is no family history of the disease. But the genetic factors causing the other half of these sporadic cases have been unclear.
Professor Jeong Ho Lee at the Graduate School of Medical Science and Engineering and colleagues analysed the DNA present in post-mortem hippocampal formations and in blood samples from people aged 70 to 96 with AD and age-matched controls. They specifically looked for non-inherited somatic mutations in their brains using high-depth whole exome sequencing.
The team developed a bioinformatics pipeline that enabled them to detect low-level brain somatic single nucleotide variations (SNVs) – mutations that involve the substitution of a single nucleotide with another nucleotide. Brain somatic SNVs have been reported on and accumulate throughout our lives and can sometimes be associated with a range of neurological diseases.
The number of somatic SNVs did not differ between individuals with AD and non-demented controls. Interestingly, somatic SNVs in AD brains arise about 4.8 times more slowly than in blood. When the team performed gene-set enrichment tests, 26.9 percent of the AD brain samples had pathogenic brain somatic SNVs known to be linked to hyperphosphorylation of tau proteins, which is one of major hallmarks of AD.
Then, they pinpointed a pathogenic SNV in the PIN1 gene, a cis/trans isomerase that balances phosphorylation in tau proteins, found in one AD patient’s brain. They found the mutation was 4.9 time more abundant in AT8-positive – a marker for hyper-phosphorylated tau proteins– neurons in the entorhinal cortex than the bulk hippocampal tissue. Furthermore, in a series of functional assays, they observed the mutation causing a loss of function in PIN1 and such haploinsufficiency increased the phosphorylation and aggregation of tau proteins.
“Our study provides new insights into the molecular genetic factors behind Alzheimer’s disease and other neurodegenerative diseases potentially linked to somatic mutations in the brain,” said Professor Lee.
The team is planning to expand their study to a larger cohort in order to establish stronger links between these brain somatic mutations and the pathogenesis of Alzheimer’s disease.
(Figure 1. Bioinformatic pipeline for detecting low-level brain somatic mutations in AD and non-AD.)
(Figure 2. Pathogenic brain somatic mutations associated with tau phosphorylation are significantly enriched in AD brains.)
(Figure 3. A pathogenic brain somatic mutation in PIN1 (c. 477 C>T) is a loss-of-function and related functional assays show its haploinsufficiency increases phosphorylation and aggregation of tau.)
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