A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy

Paulina Felczak; Aleksandra Kuźniar-Pałka; Agnieszka Ługowska; Elżbieta Stawicka; Sylwia Tarka; Hanna Mierzewska

doi:10.5114/fn.2023.133795

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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1/2024
vol. 62

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abstract:

Original paper

A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy

Paulina Felczak

¹

,

Aleksandra Kuźniar-Pałka

²

,

Agnieszka Ługowska

³

,

Elżbieta Stawicka

²

,

Sylwia Tarka

⁴

,

Hanna Mierzewska

²

Department of Neuropathology, Institute of Psychiatry and Neurology, Warsaw, Poland
Clinic of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland
Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland
Department of Forensic Medicine, Warsaw Medical University, Warsaw, Poland

Folia Neuropathol 2024; 62 (1): 21-31

DOI: https://doi.org/10.5114/fn.2023.133795

Online publish date: 2024/03/01

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AMA

Felczak P, Kuźniar-Pałka A, Ługowska A, Stawicka E, Tarka S, Mierzewska H. A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy. Folia Neuropathologica. 2024;62(1):21-31. doi:10.5114/fn.2023.133795.

APA

Felczak, P., Kuźniar-Pałka, A., Ługowska, A., Stawicka, E., Tarka, S.,  & Mierzewska, H. (2024). A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy. Folia Neuropathologica, 62(1), 21-31. https://doi.org/10.5114/fn.2023.133795

Chicago

Felczak, Paulina, Aleksandra Kuźniar-Pałka, Agnieszka Ługowska, Elżbieta Stawicka, Sylwia Tarka,  and Hanna Mierzewska. 2024. "A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy". Folia Neuropathologica 62 (1): 21-31. doi:10.5114/fn.2023.133795.

Harvard

Felczak, P., Kuźniar-Pałka, A., Ługowska, A., Stawicka, E., Tarka, S.,  and Mierzewska, H. (2024). A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy. Folia Neuropathologica, 62(1), pp.21-31. https://doi.org/10.5114/fn.2023.133795

MLA

Felczak, Paulina et al. "A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy." Folia Neuropathologica, vol. 62, no. 1, 2024, pp. 21-31. doi:10.5114/fn.2023.133795.

Vancouver

Felczak P, Kuźniar-Pałka A, Ługowska A, Stawicka E, Tarka S, Mierzewska H. A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy. Folia Neuropathologica. 2024;62(1):21-31. doi:10.5114/fn.2023.133795.

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Neuronal ceroid lipofuscinoses (NCLs) are a growing group of neurodegenerative storage diseases, in which specific features are sought to facilitate the creation of a universal diagnostic algorithm in the future. In our ultrastructural studies, the group of NCLs was represented by the CLN2 disease caused by a defect in the TPP1 gene encoding the enzyme tripeptidyl-peptidase 1. A 3.5-year-old girl was affected by this disease. Due to diagnostic difficulties, the spectrum of clinical, enzymatic, and genetic tests was extended to include analysis of the ultrastructure of cells from a rectal biopsy. The aim of our research was to search for pathognomonic features of CLN2 and to analyse the mitochondrial damage accompanying the disease. In the examined cells of the rectal mucosa, as expected, filamentous deposits of the curvilinear profile (CVP) type were found, which dominated quantitatively. Mixed deposits of the CVP/fingerprint profile (FPP) type were observed less frequently in the examined cells. A form of inclusions of unknown origin, not described so far in CLN2 disease, were wads of osmophilic material (WOMs). They occurred alone or co-formed mixed deposits. In addition, atypically damaged mitochondria were observed in muscularis mucosae. Their deformed cristae had contact with inclusions that looked like CVPs. Considering the confirmed role of the c subunit of the mitochondrial ATP synthase in the formation of filamentous lipopigment deposits in the group of NCLs, we suggest the possible significance of other mitochondrial proteins, such as mitochondrial contact site and cristae organizing system (MICOS), in the formation of these deposits. The presence of WOMs in the context of searching for ultrastructural pathognomonic features in CLN2 disease also requires further research.

keywords:

A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy

Paulina Felczak 1 , Aleksandra Kuźniar-Pałka 2 , Agnieszka Ługowska 3 , Elżbieta Stawicka 2 , Sylwia Tarka 4 , Hanna Mierzewska 2

neuronal ceroid lipofuscinoses, CLN2 disease, mitochondria damage, curvilinear profiles, fingerprint profiles, rectal biopsy

Paulina Felczak

¹

,

Aleksandra Kuźniar-Pałka

²

,

Agnieszka Ługowska

³

,

Elżbieta Stawicka

²

,

Sylwia Tarka

⁴

,

Hanna Mierzewska

²