Autism spectrum disorder: an omics perspective.

Area of Science:

• Neuroscience
• Biochemistry
• Genetics

Background:

• Autism spectrum disorder (ASD) is complex, with genetic factors converging at the cellular level.
• Genetic analysis alone may be insufficient for understanding ASD.
• Neurodevelopmental disorders like fragile X syndrome (FXS) and Smith-Lemli-Opitz Syndrome (SLOS) share high ASD comorbidity.

Purpose of the Study:

• To review the application of mass spectrometry (MS) in autism spectrum disorder (ASD) research.
• To highlight the role of MS-based proteomic analysis in understanding endogenous protein changes in ASD.
• To explore MS applications in related neurodevelopmental disorders with ASD comorbidity.

Main Methods:

• Review of current literature on mass spectrometry (MS) applications in ASD.
• Focus on proteomic analysis techniques.
• Examination of MS studies in FXS and SLOS.

Main Results:

• MS is increasingly utilized for studying central nervous system (CNS) disorders, including ASDs.
• Proteomic research using MS provides insights into endogenous protein alterations in ASD.
• MS has been applied to investigate genetic syndromes like FXS and SLOS, which are linked to ASD.

Conclusions:

• Mass spectrometry offers a valuable approach to complement genetic studies in ASD research.
• Proteomic analysis via MS is crucial for understanding the molecular pathology of ASD.
• Further research using MS can elucidate shared mechanisms in ASD and related neurodevelopmental disorders.