Missense Mutation of Angiotensin Converting Enzyme Gene in an Alzheimer's Disease Patient: a Case Report

Overview

Journal Front Neurosci

Date 2024 Mar 22

PMID 38516313

Authors

Mingyue He

Fan Zhang

Jing Qi

Wei Zhang

Affiliations

Soon will be listed here.

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).

References

McKeith I, Boeve B, Dickson D, Halliday G, Taylor J, Weintraub D . Diagnosis and management of dementia with Lewy bodies: Fourth consensus report of the DLB Consortium. Neurology. 2017; 89(1):88-100. PMC: 5496518. DOI: 10.1212/WNL.0000000000004058. View

Katz S, Ford A, Moskowitz R, Jackson B, JAFFE M . STUDIES OF ILLNESS IN THE AGED. THE INDEX OF ADL: A STANDARDIZED MEASURE OF BIOLOGICAL AND PSYCHOSOCIAL FUNCTION. JAMA. 1963; 185:914-9. DOI: 10.1001/jama.1963.03060120024016. View

Liu S, Ando F, Fujita Y, Liu J, Maeda T, Shen X . A clinical dose of angiotensin-converting enzyme (ACE) inhibitor and heterozygous ACE deletion exacerbate Alzheimer's disease pathology in mice. J Biol Chem. 2019; 294(25):9760-9770. PMC: 6597817. DOI: 10.1074/jbc.RA118.006420. View

Mok E, Lam L, Chiu H . Category verbal fluency test performance in chinese elderly with Alzheimer's disease. Dement Geriatr Cogn Disord. 2004; 18(2):120-4. DOI: 10.1159/000079190. View

Katsumata Y, Mathews M, Abner E, Jicha G, Caban-Holt A, Smith C . Assessing the discriminant ability, reliability, and comparability of multiple short forms of the Boston Naming Test in an Alzheimer's disease center cohort. Dement Geriatr Cogn Disord. 2015; 39(3-4):215-27. PMC: 4374652. DOI: 10.1159/000370108. View

de Oliveira F, Chen E, Smith M, Bertolucci P . Associations of cerebrovascular metabolism genotypes with neuropsychiatric symptoms and age at onset of Alzheimer's disease dementia. Braz J Psychiatry. 2017; 39(2):95-103. PMC: 7111454. DOI: 10.1590/1516-4446-2016-1991. View

Bondi M, Serody A, Chan A, Eberson-Shumate S, Delis D, Hansen L . Cognitive and neuropathologic correlates of Stroop Color-Word Test performance in Alzheimer's disease. Neuropsychology. 2002; 16(3):335-43. DOI: 10.1037//0894-4105.16.3.335. View

Zhu X, Tan L, Wang H, Jiang T, Cao L, Wang C . Rate of early onset Alzheimer's disease: a systematic review and meta-analysis. Ann Transl Med. 2015; 3(3):38. PMC: 4356853. DOI: 10.3978/j.issn.2305-5839.2015.01.19. View

Hu J, Igarashi A, Kamata M, Nakagawa H . Angiotensin-converting enzyme degrades Alzheimer amyloid beta-peptide (A beta ); retards A beta aggregation, deposition, fibril formation; and inhibits cytotoxicity. J Biol Chem. 2001; 276(51):47863-8. DOI: 10.1074/jbc.M104068200. View

10.

Hsieh S, Liu M, Huang L, Wu M, Yang Y . The Impact of Angiotensin-Converting Enzyme Gene on Behavioral and Psychological Symptoms of Dementia in Alzheimer's Disease. Curr Alzheimer Res. 2020; 16(14):1269-1275. DOI: 10.2174/1567205017666200103114550. View

11.

Guo Q, Zhao Q, Chen M, Ding D, Hong Z . A comparison study of mild cognitive impairment with 3 memory tests among Chinese individuals. Alzheimer Dis Assoc Disord. 2009; 23(3):253-9. DOI: 10.1097/WAD.0b013e3181999e92. View

12.

Wei M, Shi J, Li T, Ni J, Zhang X, Li Y . Diagnostic Accuracy of the Chinese Version of the Trail-Making Test for Screening Cognitive Impairment. J Am Geriatr Soc. 2017; 66(1):92-99. DOI: 10.1111/jgs.15135. View

13.

Yuan Y, Piao J, Ma K, Lu N . Angiotensin-converting enzyme gene insertion-deletion polymorphism is a risk marker for Alzheimer's disease in a Chinese population: a meta-analysis of case-control studies. J Neural Transm (Vienna). 2015; 122(8):1105-13. DOI: 10.1007/s00702-015-1368-6. View

14.

Nalivaeva N, Turner A . Targeting amyloid clearance in Alzheimer's disease as a therapeutic strategy. Br J Pharmacol. 2019; 176(18):3447-3463. PMC: 6715594. DOI: 10.1111/bph.14593. View

15.

Sorbi S, Hort J, Erkinjuntti T, Fladby T, Gainotti G, Gurvit H . EFNS-ENS Guidelines on the diagnosis and management of disorders associated with dementia. Eur J Neurol. 2012; 19(9):1159-79. DOI: 10.1111/j.1468-1331.2012.03784.x. View

16.

Jack Jr C, Bennett D, Blennow K, Carrillo M, Dunn B, Budd Haeberlein S . NIA-AA Research Framework: Toward a biological definition of Alzheimer's disease. Alzheimers Dement. 2018; 14(4):535-562. PMC: 5958625. DOI: 10.1016/j.jalz.2018.02.018. View

17.

Folstein M, Folstein S, McHugh P . "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975; 12(3):189-98. DOI: 10.1016/0022-3956(75)90026-6. View

18.

Starkstein S, Mayberg H, Preziosi T, Andrezejewski P, Leiguarda R, Robinson R . Reliability, validity, and clinical correlates of apathy in Parkinson's disease. J Neuropsychiatry Clin Neurosci. 1992; 4(2):134-9. DOI: 10.1176/jnp.4.2.134. View

19.

Xin X, Lai Z, Ding K, Zeng L, Ma J . Angiotensin-converting enzyme polymorphisms AND Alzheimer's disease susceptibility: An updated meta-analysis. PLoS One. 2021; 16(11):e0260498. PMC: 8612529. DOI: 10.1371/journal.pone.0260498. View

20.

Shuaib S, Saini R, Goyal D, Goyal B . Impact of K16A and K28A mutation on the structure and dynamics of amyloid-β peptide in Alzheimer's disease: key insights from molecular dynamics simulations. J Biomol Struct Dyn. 2019; 38(3):708-721. DOI: 10.1080/07391102.2019.1586587. View