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The genetic ABCs of developing neurodevelopment conditions
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The genetic ABCs of developing neurodevelopment conditions

A recent study traced the link of the ACBD6 gene in brain-related congenital conditions
Role of ACBD6 gene in neurodevelopment conditions
Early phases of brain development | Representational image

Worldwide, many people face rare neurological conditions and the origin of some of these can be traced to genes. Now, a study has discovered the role of another gene—ACBD6—in the development of neurological conditions.

The study published in Oxford Academic identified that the ACBD6 gene plays a crucial role in helping cells identify fellow cells they need to interact with during the early stages of development after fertilisation.

Interactions that matter

During fertilisation, an egg and sperm fuse to form a single cell. This cell then multiplies to form a mass of cells, which migrate to form different body structures. Before they migrate, these cells talk to each other—this interaction being critical in the development of the complex human body from a single cell.

The ACBD6 gene plays a key role in these highly specific interactions and is especially crucial for brain development.

Animal experiments

Researchers in the current study experimented on zebrafish and frogs to understand the role of the ACBD6 gene, and decoded the information stored in the gene using exome sequencing.

They snipped the ACBD6 gene in the zebrafish and frogs using CRISPR/Cas9, a biological scissor and glue technique. They then followed the model animals’ growth and development.

To validate their observations, researchers also turned their microscopes on cultured human cells. This helped them study the molecular interactions and signalling mechanisms for human brain development.

Study’s findings

The study found that deleting the ACBD6 gene in the early phase of life led to neurodevelopment conditions. The mutated ACBD6 protein interfered with the normal functioning of other proteins and signalling molecules. This meant that the development of the brain, eyes, and muscles of the zebrafish and frog models were affected. The consequence? Their mobility, capability to discern their environment, and visual ability were all adversely affected.

The researchers also identified 45 people with the altered ACBD6 gene. These people showed brain defects ranging from moderate to severe, including intellectual disability, language impairment, tremors, and movement restrictions. Moreover, scans showed structural malformation in the corpus callosum region of their brain, and a surplus of specific proteins involved in neurological conditions like Parkinson’s and ataxia.

Implications

Earlier, only limited information was available about ACBD6. This study has been able to map this gene’s role in neurodevelopment conditions.

“The findings of this study add up to ongoing research and would pave the way for future works and possible therapies,” says Dr Prashanth L K, consultant neurologist and movement disorder specialist at Parkinson Disease and Movement Disorders Clinic, Bengaluru, who was not involved in the study.

The neurological aspects of cognitive and movement mechanisms are complex and progressive in the early phases of life, and the role of the ACBD6 gene has shone a light on these intricacies.

Further understanding of this gene would help us develop better diagnostics and targeted therapies.

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