Missense mutation of angiotensin converting enzyme gene in an Alzheimer's disease patient: a case report

Mingyue He; Fan Zhang; Jing Qi; Wei Zhang

doi:10.3389/fnins.2024.1343279

Missense mutation of angiotensin converting enzyme gene in an Alzheimer's disease patient: a case report

Front Neurosci. 2024 Mar 7:18:1343279. doi: 10.3389/fnins.2024.1343279. eCollection 2024.

Authors

Mingyue He^#¹, Fan Zhang^#¹, Jing Qi¹, Wei Zhang^{1

2

3

4

5}

Affiliations

¹ Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
² Center for Cognitive Neurology, Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
³ China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
⁴ Center of Parkinson's Disease, Beijing Institute for Brain Disorders, Beijing, China.
⁵ Beijing Key Laboratory on Parkinson Disease, Beijing, China.

^# Contributed equally.

Abstract

Alzheimer's disease (AD) is the most common type of cognitive impairment in the elderly. In this report, we presented a case of a 52-year-old woman with rapid disease progression within 6 months. She was diagnosed with mild dementia according to the clinical symptoms and neuropsychological assessment results. Based on the results of neuropathological proteins in cerebrospinal fluid, cranial magnetic resonance imaging, and positron emission tomography/computed tomography, the patient showed the presence of β amyloid deposition, pathologic tau along with neurodegeneration [A+T+(N+)], indicative of AD. Whole exome sequencing revealed a heterozygous C-to-T missense mutation of nucleotide 3,755 (c.3755C > T) in exon 25 of the angiotensin converting enzyme (ACE) gene on chromosome 17q23 (rs762056936).

Keywords: Alzheimer’s disease; angiotensin converting enzyme; early-onset; missense mutation; neuropsychiatric symptoms; rapid progression.

Publication types

Case Reports

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This research was supported by the National Key Research and Development Program of China (2016YFC1306300, 2016YFC1306000), the National Natural Science Foundation of China (81970992, 81571229, 81071015, 30770745, 82201639), the Capital’s Funds for Health Improvement and Research (CFH) (2022–2-2048), the Collaborative Research Project of Traditional Chinese and Western Medicine of the Major Difficult Disease-Alzheimer’s Disease of Beijing (2023BJSZDYNJBXTGG-018), the Key Technology R&D Program of Beijing Municipal Education Commission (kz201610025030), the Natural Science Foundation of Beijing, China (7082032), the Project of Scientific and Technological Development of Traditional Chinese Medicine in Beijing (JJ2018-48), the Capital Clinical Characteristic Application Research (Z121107001012161).