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Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

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A high-throughput screening platform to facilitate treatment development in Rett syndrome.

Yanhong Yin¹, Anxin Wang¹, Qiping Dong¹

¹Waisman Center, University of Wisconsin-Madison, Madison, WI, United States.

Frontiers in Neurology

|May 25, 2026

Summary

Rett syndrome (RTT) research identifies potential therapeutic targets by screening FDA-approved drugs and genes. This study highlights isradipine and LRRC17 as promising candidates to address mitochondrial dysfunction in RTT.

Keywords:

JC-10-based mitochondrial membrane potential (MMP) assay Rett syndrome (RTT)high-throughput screening (HTS)human embryonic stem cells (hESCs)/induced pluripotent stem cells (iPSCs) derived neurons/astrocytes isradipine leucine rich repeating containing 17 (LRRC17)methyl-CpG-binding protein 2 (MECP2)

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Area of Science:

Neuroscience
Genetics
Cell Biology

Background:

Rett syndrome (RTT) is a rare neurodevelopmental disorder with no cure, characterized by progressive symptoms and mitochondrial dysfunction.
Mitochondrial abnormalities, including impaired energy production and oxidative stress, are consistently observed in RTT patient models.
The precise mechanisms linking MECP2 gene mutations to these mitochondrial deficits remain unclear, necessitating further investigation.

Purpose of the Study:

To establish a high-throughput screening (HTS) platform for identifying therapeutic interventions for RTT.
To screen FDA-approved drugs and genes for their ability to correct mitochondrial membrane potential deficits in RTT astrocytes.
To identify novel drug and gene targets for RTT treatment.

Main Methods:

Developed an HTS platform using the JC-10 mitochondrial membrane potential (MMP) assay with RTT patient-derived induced pluripotent stem cells (iPSCs).
Screened 1,134 FDA-approved drugs and 336 small interfering RNA (siRNA) targets in RTT astrocytes.
Validated primary hits through independent functional assays and conducted in vitro/in vivo studies for promising candidates.

Main Results:

Identified candidate drugs and genes that reversed MMP deficits in RTT astrocytes.
Isradipine, a calcium-channel blocker, showed preliminary neuroprotective effects.
LRRC17 gene knockdown rescued mitochondrial dysfunction in RTT astrocytes and neurons, indicating its role in cellular deficits.

Conclusions:

The study established a novel HTS platform for RTT therapeutic target identification.
Isradipine and LRRC17 are identified as promising candidates for further investigation in RTT.
These findings offer new insights into mitochondrial dysfunction in RTT and potential therapeutic strategies.