PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.

ABSTRACT: An in depth study of PSEN1 mutation p.Thr116Ile (c.335C>T) is presented from two Korean families with autosomal dominant inheritance. Clinical manifestation of our patients included memory loss, attention deficits, visuospatial dysfunction, agnosia, aphasia, apraxia, and personality changes, which occurred in their 30s. PSEN1 Thr116Ile was initially discovered in an Italian patient and two French families with early onset Alzheimer's disease (EOAD) with similar age of onset. To verify the possible pathogenic mechanisms of mutation, in silico predictions and 3D modeling were performed. Structure predictions revealed significant aberrations in first hydrophilic loop (HL-I loop). The hydrophobic isoleucine could alter the loop orientation through increased hydrophobic contacts with the surrou

SUBMITTER: Bagyinszky E 

PROVIDER: S-EPMC6164060 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature