Unravelling the Genetic Link to Autism and ADHD: The Role of MTHFR Mutation and Other SNPs in Neurodivergent presentations.

What are genetic SNPs

Single nucleotide polymorphisms, or SNPs (pronounced "snips"), are a type of genetic variation among people. They occur when a single building block of DNA, called a nucleotide, differs at a specific position in the genome between individuals. SNPs are incredibly common throughout the human genome. On average, there's an SNP about every 1,000 nucleotides, meaning there are millions of SNPs scattered across our DNA.

While some SNPs may not have any impact, others can influence our physical traits, susceptibility to diseases, or even how we respond to medications.

Autism and attention deficit hyperactivity disorder (ADHD) are complex neurodivergent presentations that are understood to have a genetic influence. While the exact causes of neurodivergent presentations remain unclear, research suggests that genetics SNPs may play a significant role.

MTHFR Mutation and Its Impact

One gene that has been extensively studied in the context of ASD and ADHD is methylenetetrahydrofolate reductase (MTHFR). This gene provides instructions for producing an enzyme that helps convert folate, a B vitamin, into its active form. Folate is essential for various biological processes, including DNA synthesis and repair.

Mutations in the MTHFR gene can lead to reduced enzyme activity, impairing folate metabolism. This, in turn, can disrupt the production of neurotransmitters, brain chemicals that play a crucial role in communication and regulation of behaviour.

Research has shown that Autistic or ADHD individuals are more likely to have certain MTHFR mutations compared to the general population. These mutations have been associated with increased severity of characteristic, particularly in individuals with ADHD.

Other Genetic SNPs involved in Autism and ADHD

In addition to MTHFR, several other single-nucleotide polymorphisms (SNPs) have been linked to Autism and ADHD. SNPs are variations in a single DNA building block, and they can influence gene expression and function.

Some of the SNPs associated with Autism include:

·         COMT (catechol-O-methyltransferase): This gene codes for an enzyme involved in dopamine breakdown. Dopamine is a neurotransmitter that plays a role in motivation, reward, and movement.

·         REXO1 (receptor expression protein 1 homolog): This gene is involved in neuronal development and communication.

·         MET (methionine adenosyl transferase): This gene is involved in folate metabolism and neurotransmitter synthesis.

SNPs associated with ADHD include:

·         DRD4 (dopamine receptor D4): This gene codes for a dopamine receptor involved in regulating attention and impulsivity.

·         DAT1 (dopamine transporter): This gene codes for a protein that transports dopamine from the synapse back into the neuron.

·         DBH (dopamine beta-hydroxylase): This gene codes for an enzyme involved in dopamine synthesis.

Genetic Risk and Environmental Factors in Neurodivergent presentations

It is important to note that genetics alone do not determine whether an individual will be neurodivergent. Environmental factors, such as prenatal exposure to certain chemicals or infections, can also play a role in differences in neurodevelopment.

Researchers believe that Autism and ADHD likely arise from a complex interplay between genetic predisposition and environmental triggers. Identifying the specific genes and SNPs involved can help us understand the underlying mechanisms of these disorders and develop more effective diagnostic tools and targeted support to improve quality of life for neurodivergent individuals.

Get in touch to find out more about genetic SNP’s and neurodivergent support.

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