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Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia
Published on: February 9, 2020
Data supporting mitochondrial morphological changes by SPG13-associated HSPD1 mutants
Yuki Miyamoto1, Funakoshi-Tago Megumi2, Nanami Hasegawa3
1Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan.
Abstract:
The data is related to the research article entitled "Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics" [1]. In addition to hypomyelinating leukodystrophy (HLD) 4 (OMIM no. 612233), it is known that spastic paraplegia (SPG) 13 (OMIM no. 605280) is caused by HSPD1's amino acid mutation. Two amino acid mutations Val-98-to-Ile (V98I) and Gln-461-to-Glu (Q461E) are associated with SPG13 [2]. In order to investigate the effects of HSPD1's V98I or Q461E mutant on mitochondrial morphological changes, we transfected each of the respective mutant-encoding genes into Cos-7 cells. Either of V98I or Q461E mutant exhibited increased number of mitochondria and short length mitochondrial morphologies. Using MitoTracker dye-incorporating assay, decreased mitochondrial membrane potential was also observed in both cases. The data described here supports that SPG13-associated HSPD1 mutant participates in causing aberrant mitochondrial morphological changes with decreased activities.
Insights
Mutations in the HSPD1 gene cause Spastic Paraplegia 13, leading to abnormal mitochondrial shape and function. This research investigates how these HSPD1 mutations impact mitochondrial dynamics and cell health.
Area of Science:
- Cell Biology
- Genetics
- Neuroscience
Background:
- Spastic Paraplegia 13 (SPG13) is linked to mutations in the HSPD1 gene.
- Specific mutations, Val-98-to-Ile (V98I) and Gln-461-to-Glu (Q461E), are associated with SPG13.
- HSPD1 encodes a mitochondrial protein crucial for mitochondrial function.
Purpose of the Study:
- To investigate the impact of SPG13-associated HSPD1 mutations (V98I and Q461E) on mitochondrial morphology and function.
- To understand the cellular mechanisms underlying HSPD1-related leukodystrophies.
Main Methods:
- Transfection of Cos-7 cells with HSPD1 V98I and Q461E mutant genes.
- Mitochondrial morphology assessment.
- Mitochondrial membrane potential measurement using MitoTracker dye.
Main Results:
- Both V98I and Q461E mutants resulted in an increased number of mitochondria.
- Mutant HSPD1 proteins caused shorter mitochondrial lengths.
- A decrease in mitochondrial membrane potential was observed in cells expressing either mutant.
Conclusions:
- SPG13-associated HSPD1 mutations induce significant alterations in mitochondrial morphology.
- These mutations lead to impaired mitochondrial function, evidenced by decreased membrane potential.
- The findings suggest a role for HSPD1 mutations in aberrant mitochondrial dynamics contributing to HLD and SPG13 pathogenesis.
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