Somatic and Stem Cell Bank to study the contribution of African ancestry to dementia: African iPSC Initiative

IF 13 1区医学 Q1 CLINICAL NEUROLOGY

Alzheimer's & Dementia Pub Date : 2025-04-12 DOI:10.1002/alz.70145

Mahmoud B. Maina, Murtala B. Isah, Jacob A. Marsh, Zaid Muhammad, Larema Babazau, Abdulrahman Alkhamis Idris, Ekaterina Aladyeva, Nadia Miller, Emma Starr, Katherine J. Miller, Scott Lee, Miguel Minaya, Selina Wray, Oscar Harari, Baba W. Goni, Louise C. Serpell, Celeste M. Karch

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引用次数: 0

Abstract

INTRODUCTION

Africa, home to 1.4 billion people and the highest genetic diversity globally, harbors unique genetic variants crucial for understanding complex diseases like neurodegenerative disorders. However, African populations remain underrepresented in induced pluripotent stem cell (iPSC) collections, limiting the exploration of population-specific disease mechanisms and therapeutic discoveries.

METHODS

To address this gap, we established an open-access African Somatic and Stem Cell Bank.

RESULTS

In this initial phase, we generated 10 rigorously characterized iPSC lines from fibroblasts representing five Nigerian ethnic groups and both sexes. These lines underwent extensive profiling for pluripotency, genetic stability, differentiation potential, and Alzheimer's disease and Parkinson's disease risk variants. Clustered regularly interspaced palindromic repeats (CRISPR)/CRISPR-associated protein 9 technology was used to introduce frontotemporal dementia-associated MAPT mutations (P301L and R406W).

DISCUSSION

This collection offers a renewable, genetically diverse resource to investigate disease pathogenicity in African populations, facilitating breakthroughs in neurodegenerative research, drug discovery, and regenerative medicine.

Highlights

We established an open-access African Somatic and Stem Cell Bank.
10 induced pluripotent stem cell lines from five Nigerian ethnic groups were rigorously characterized.
Clustered regularly interspaced palindromic repeats (CRISPR)/CRISPR-associated protein 9 technology was used to introduce frontotemporal dementia-causing MAPT mutations.
The African Somatic and Stem Cell Bank is a renewable, genetically diverse resource for neurodegenerative research.

Abstract Image

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体细胞和干细胞库研究非洲血统对痴呆症的贡献：非洲iPSC倡议

引言非洲有14亿人口，是全球遗传多样性最高的地区，蕴藏着独特的遗传变异，对了解神经退行性疾病等复杂疾病至关重要。然而，非洲人群在诱导多能干细胞（iPSC）收集中的代表性仍然不足，限制了对特定人群疾病机制的探索和治疗发现。方法为填补这一空白，我们建立了一个开放存取的非洲体细胞和干细胞库。结果在初始阶段，我们从代表尼日利亚五个种族群体和男女的成纤维细胞中产生了 10 个特征严格的 iPSC 株系。我们对这些品系的多能性、遗传稳定性、分化潜力以及阿尔茨海默病和帕金森病风险变异进行了广泛的分析。利用簇状规则间距回文重复序列（CRISPR）/CRISPR相关蛋白9技术引入了与额颞叶痴呆相关的MAPT突变（P301L和R406W）。讨论该基因库为研究非洲人群的疾病致病性提供了可再生的、基因多样化的资源，有助于在神经退行性疾病研究、药物发现和再生医学方面取得突破性进展。亮点我们建立了一个开放存取的非洲体细胞和干细胞库。对来自尼日利亚五个民族的 10 个诱导多能干细胞系进行了严格鉴定。利用聚类规则间隔回文重复序列（CRISPR）/CRISPR相关蛋白9技术引入了导致额颞叶痴呆的MAPT突变。非洲体细胞和干细胞库是神经退行性疾病研究的可再生、基因多样化资源。

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来源期刊

Alzheimer's & Dementia 医学-临床神经学

CiteScore

14.50

自引率

5.00%

发文量

299

审稿时长

3 months

期刊介绍： Alzheimer's & Dementia is a peer-reviewed journal that aims to bridge knowledge gaps in dementia research by covering the entire spectrum, from basic science to clinical trials to social and behavioral investigations. It provides a platform for rapid communication of new findings and ideas, optimal translation of research into practical applications, increasing knowledge across diverse disciplines for early detection, diagnosis, and intervention, and identifying promising new research directions. In July 2008, Alzheimer's & Dementia was accepted for indexing by MEDLINE, recognizing its scientific merit and contribution to Alzheimer's research.