Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy
Open accessAbstract
Defects of adrenoleukodystrophy protein (ALDP) lead to X-linked adrenoleukodystrophy (X-ALD), a disorder mainly affecting the nervous system white matter and the adrenal cortex. In the present study, we examine the expression of ALDP in various human tissues and cell lines by multiple-tissue RNA expression array analysis, Western blot analysis, and immunohistochemistry. ALDP-encoding mRNA is most abundant in tissues with high energy requirements such as heart, muscle, liver, and the renal and endocrine systems. ALDP selectively occurs in specific cell types of brain (hypothalamus and basal nucleus of Meynert), kidney (distal tubules), skin (eccrine gland, hair follicles, and fibroblasts), colon (ganglion cells and epithelium), adrenal gland (zona reticularis and fasciculata), and testis (Sertoli and Leydig cells). In pituitary gland, ALDP is confined to adrenocorticotropin-producing cells and is significantly reduced in individuals receiving long term cortisol treatment. This might indicate a functional link between ALDP and proopiomelanocortin-derived peptide hormones.
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According to another study on four adults who died of non-metabolic diseases at 22-79 years of age, ALDP was expressed in astrocytes and microglia in subcortical and cerebellar white matter but almost absent from the internal capsules, corpus callosum, and the corticospinal tract.
“According to another study on four adults who died of non-metabolic diseases at 22–79 years of age [157], ALDP was expressed in astrocytes and microglia in subcortical and cerebellar white matter but almost absent from the internal capsules, corpus callosum, and the corticospinal tract.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [157]
Endothelial cells abundantly express ALDP.
“They abundantly express ALDP [156,157,416].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [157]
In neurons of human dorsal root ganglia, peroxisomes were readily detected based on immunohistochemistry for ABCD1.
“In neurons of human dorsal root ganglia, peroxisomes were readily detected based on immunohistochemistry for ABCD1 [30].”
From Peroxisomes in brain development and function (2016) · cites this paper as [30]
In the human brain, ABCD1 is predominantly expressed in oligodendrocytes, microglia, astrocytes and endothelial cells but not in most neurons, with exceptions including hypothalamus, basal nucleus of Meynert, periaqueductal gray matter and locus coeruleus.
“In the human brain, based on immunohistochemical detection, ABCD1 is predominantly expressed in oligodendrocytes, microglia, astrocytes and endothelial cells but not in most neurons, with the exception of a few regions: hypothalamus, basal nucleus of Meynert, periaqueductal gray matter and the locus coeruleus [16,30].”
From Peroxisomes in brain development and function (2016) · cites this paper as [30]
In the CNS, ALDP is mostly expressed in oligodendrocytes, microglia, astrocytes and endothelial cells, but not in most neurons with the exception of hypothalamus, basal nucleus of Meynert, periaqueductal gray matter and locus coeruleus.
“In the CNS, ALDP is mostly expressed in oligodendrocytes, microglia, astrocytes and endothelial cells [84], but not in most neurons with the exception of hypothalamus, basal nucleus of Meynert, periaqueductal gray matter and in the locus coeruleus [85].”
From X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects (2012) · cites this paper as [85]
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“ABCD1 is ubiquitously expressed in skeletal myocytes, hepatocytes, the renal and endocrine systems, and in the stroma of connective tissues— fibroblasts, macrophages, and endothelium (Höftberger et al., 2007).”
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“15”
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Monitoring for and Management of Endocrine Dysfunction in Adrenoleukodystrophy
Kachwala, I. A., & Regelmann, M. O. (2022) · International Journal of Neonatal Screening · doi:10.3390/ijns8010018 · Cited by 9 · see citing works
“Generalized sparse scalp hair is described in males with ALD and may not be related to androgen deficiency, as the ABCD1 gene is also expressed in hair follicles [26].”
BackgroundFerrer, R. M., Jaspers, Y. R. J., Dijkstra, I. M. E., Breeuwsma, N., van Klinken, J. B., Romero, C., Engelen, M., Kemp, S., & Heine, V. M. (2024) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12832 · Cited by 7 · see citing works
Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia
Gong, Y., Laheji, F. K., Berenson, A., Qian, A., Park, S.-O., Kok, R., Selig, M. K., Hahn, R., Sadjadi, R., Kemp, S., et al. (2022) · Cells · doi:10.3390/cells11111842 · Cited by 7 · see citing works
“As in wild-type mice, high levels of detectable ABCD1 protein are seen in normal human DRG neurons [11].”
BackgroundÇetin, S., Uysal, S., Girgin, D., Alp, A., Kiliç, E., & Çıray, R. O. (2025) · Neuroglia · doi:10.3390/neuroglia6030034 · Cited by 4 · see citing works
“Similarly, in TS models, expression of the glutamate transporters GLT-1 and GLAST is diminished, resulting in elevated extracellular glutamate, excitotoxicity, and compromised synaptic plasticity [99,100].”
Mouse Models of Metachromatic Leukodystrophy and Adrenoleukodystrophy
Aubourg, P. R., Sevin, C., & Cartier, N. (2010) · Neuromethods · doi:10.1007/978-1-60761-898-0_26 · Cited by 5 · see citing works
Fujitani, N., Akashi, T., Saito, M., Morita, M., So, T., & Oka, K. (2023) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12703 · Cited by 4 · see citing works
Leukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation
Benzoni, C., Farina, L., Pensato, V., Marotta, G., Kuqo, A., Mauro, E., Pareyson, D., & Salsano, E. (2019) · The Neurologist · doi:10.1097/nrl.0000000000000252 · Cited by 3 · see citing works
The inhibitory effect of erucic acid on the polyunsaturated fatty acids in Sprague-Dawley rats
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Özgür Günes, Y., Le Stunff, C., & Bougnères, P. (2025) · Human Gene Therapy · doi:10.1089/hum.2024.175 · Cited by 2 · see citing works
“16, 17 AMN is still an orphan disease.”
Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening
Beatriz Lecumberri, S., Girós, M., Coll, M. J., Marco, A., Casado, M., Pallardo, L. F., & Pardo, J. (2012) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2011.09.003 · Cited by 2 · see citing works
Nguyen, J., Win, P. W., Nagano, T. S., Shin, E. H., Newcomb, C., Arking, D. E., & Castellani, C. A. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.01.29.577835 · Cited by 2 · see citing works
“The X-linked adrenoleukodystrophy genetic peroxisome disease has been linked to mutations in the ABCD1 gene, which affects the nervous system and kidney [69,70].”
BackgroundManor, J., Jangam, S. V., Chung, H.-L., Bhagwat, P., Andrews, J., Chester, H., Kondo, S., Srivastav, S., Botas, J., Moser, A. B., et al. (2024) · doi:10.1101/2024.09.23.614586 · Cited by 2 · see citing works
Zhao, C., Zhu, H., Wang, J., Liu, W., Xue, Y., & Hu, Y. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e28987 · Cited by 1 · see citing works
“Secondly, it was reported that ALDP was also strongly expressed in a subpopulation of secretory cells in the anterior pituitary [20].”
BackgroundWhole exome sequencing reveals ABCD1 variant as a potential contributor to male infertility
Redouane, S., Harmak, H., Hamouchi, A. E., Charoute, H., Louanjli, N., Malki, A., Barakat, A., & Rouba, H. (2025) · Molecular Biology Reports · doi:10.1007/s11033-025-10234-7 · Cited by 1 · see citing works
Gene Therapy of Adrenomyeloneuropathy: Challenges, Target Cells, and Prospectives
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“The X-linked adrenoleukodystrophy genetic peroxisome disease has been linked to mutations in the ABCD1 gene, which affects the nervous system and kidney [112,113].”
Zhu, T., Wu, J., & Sun, X. M. (2023) · Endocrine · doi:10.1007/s12020-023-03562-w · Cited by 1 · see citing works
“Höftberger et al. investigated the expression of ABCD1 in a broad range of human tissues and found ALDP was also strongly expressed in the hypothalamus, in addition to the subcortical and cerebellar white matter in the brain [18].”
BackgroundX-linked adrenoleukodystrophy; Recent Advances in Classification, Diagnosis and Management
정을식, 강훈철, & 고아라 (2016) · Annals of Child Neurology · doi:10.26815/jkcns.2016.24.3.71 · Cited by 1 · see citing works
X-linked adrenoleukodystrophy in Norway Clinical and epidemiological aspects
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Desparois, G. (2014) · Archipel (Université du Québec à Montréal)
Progressive spastic paraparesis in a young male
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Paunovic, S., Koehler, W., & Knechtle, B. (2021) · Praxis · doi:10.1024/1661-8157/a003674
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Yska, H. A. F., Engelen, M., & Bugiani, M. (2024) · Figshare · doi:10.6084/m9.figshare.26699159
Yska, H. A. F., Engelen, M., & Bugiani, M. (2024) · Figshare · doi:10.6084/m9.figshare.26699156
Yska, H. A. F., Engelen, M., & Bugiani, M. (2024) · Figshare · doi:10.6084/m9.figshare.25506745
Yska, H. A. F., Engelen, M., & Bugiani, M. (2024) · Figshare · doi:10.6084/m9.figshare.25506610
A brief history of the human liver peroxisome
Craemer, D. D., Branden, C. V. D., & Roels, F. (2026) · Histochemistry and Cell Biology · doi:10.1007/s00418-026-02495-5
“ALD protein (= ABCD1 protein) was stained by light microscopy immunochemistry in many human organs of 36 individuals (Hoftberger et al. 2007).”
- Authors
- Höftberger, R., Kunze, M., Weinhofer, I., Aboul-Enein, F., Voigtländer, T., Oezen, I., Amann, G., Bernheimer, H., Budka, H., & Berger, J.
- Affiliations
- Vienna General Hospital (AT)
- Medical University of Vienna (AT)
- Corresponding author
- Höftberger, Romana
- Venue
- Neurobiology of Disease
- Publisher
- Elsevier BV
- Published
- 2007-11
- Volume
- 28
- Issue
- 2
- Pages
- 165-174
- ISSN
- 0969-9961 (ISSN-L)
- OpenAlex
- W2027414612
- Cited by
- 69
- References
- 32
- Citations by year
- 2026: 1 · 2025: 5 · 2024: 12 · 2023: 5 · 2022: 2 · 2021: 3 · 2020: 1 · 2019: 2 · 2018: 1 · 2017: 2 · 2016: 5 · 2015: 3 · 2014: 5 · 2013: 3 · 2012: 3
- FWCI
- 2.84
- Type
- journal article
- Language
- en
- Open access
- green
- doaj.org
- Licence
- Locations
- Neurobiology of Disease (publishedVersion)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Myelin Project
- Association Européenne contre les Leucodystrophies
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Keywords
- X-linked adrenoleukodystrophy, tissue distribution, subcellular localization, RNA expression profiling, adrenal cortex, pituitary gland, hypothalamus, basal ganglia, adrenal zona fasciculata, proopiomelanocortin, Sertoli cells, Leydig cells, white matter
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adolescent, Adrenal Cortex, Adrenoleukodystrophy, Adult, Aged, Aged, 80 and over, Brain, Child, Colon, Energy Metabolism, Female, Humans, Immunohistochemistry, Infant, Kidney, Male, Middle Aged, Pituitary Gland, Pro-Opiomelanocortin, RNA, Messenger, Skin, Testis, Viscera, ATP-Binding Cassette Transporters
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