Kekemelik Genetik ve Nörolojik Faktörlerle İlgili mi?
“Kekemelik sadece “heyecan” ya da “alışkanlık” değildir — DNA’mızda izler taşıyan nörolojik bir konuşma farklılığıdır. Bazı genetik analizler, dünya çapında 1 milyondan fazla kişinin genetik verisini incelemiş ve 57 ayrı genom bölgesi ile çok sayıda genin kekemelikle ilişkili olduğunu göstermiştir. Bu genetik işaretler yalnızca konuşmanın motor kontrolüyle değil, aynı zamanda beyin ritmi, zamanlama, motor planlama ve duygu düzenleme gibi nörolojik süreçlerle de bağlantılıdır. Bu nedenle kekemelik tek bir genle değil, birden fazla genin birlikte etkisiyle şekillenir. Bu bulgular kekemeliğin biyolojik temelini ortaya koyarken, bireysel suçlama ve damgalamayı azaltmaya da katkı sağlamaktadır.”
Summary
Stuttering is recognized as a neurological speech difference with genetic underpinnings, not merely excitement or habit. Large‑scale genome‑wide studies involving close to a million participants have identified 57 distinct genomic loci affecting dozens of genes, many of which relate to motor control, timing, planning and emotional regulation. Consequently, stuttering results from the combined effect of multiple genes rather than a single genetic cause.
Sources 58 searched
- Genetic contributions to stuttering: the current evidence - PMC
Meanwhile, the four genes and ... of the neuropathology of stuttering. Stuttering subjects who carry a mutation in one of the four currently identified genes have no identifiable neurological deficits other than stuttering....
- Knowns and unknowns about the neurobiology of stuttering - PMC
This complexity poses a significant challenge in disentangling the contributions of both genetic predisposition (nature) and environmental influences (nurture) to the occurrence and remission of stuttering. Clarification of the neurobiological basis of stuttering is made even more difficult by the fluctuation, variability, and heterogeneity of the symptoms.
- Challenges and Opportunities in Characterizing the Genetics of Stuttering: From Sample Acquisition to Functional Interpretation of the Genome - PMC
Additionally, the GWAS of a predicted stuttering phenotype was able to map the genome-wide significant variant (rs12613255) to FAM49A (Shaw et al., 2021). Last, in the 23andMe self-reported stuttering GWAS, the 57 distinct genomic signals were able to be mapped to 48 unique genes (Polikowsky ...
- Genomewide study makes ‘quantum leap’ in understanding stuttering | Science | AAAS
The gene has been linked to early neuronal development, and variants have been associated with neurological disorders such as schizophrenia, epilepsy, and multiple sclerosis, as well as with an impaired ability to clap or tap in time to a musical ...
- Large-scale genome-wide analyses of stuttering | Nature Genetics
Our GWAS of self-reported stuttering in males and females is the largest to date, comprising nearly 100,000 cases and over one million controls. Although some complex traits with differences in prevalence by sex or ancestry show similar genetic architectures across these groups79,80, we found that there are both shared and distinct genetic effects impacting stuttering risk within sex and/or ancestry groups. Our primary GWAS and secondary meta-analyses identified 57 distinct signals (mapping to 48 unique genes), none of which have been previously reported in stuttering literature.
- De novo protein-coding gene variants in developmental stuttering | Molecular Psychiatry
Rare variant screens using linkage analysis followed by Sanger sequencing, and more recently using next generation sequencing, identified six genes to be associated with persistent stuttering in large families: GNPTAB [9], AP4E1 [10], IFNAR1 [11], ARMC3 [12], ZBTB20 [13] and PPID [14]. Hypothesis-driven genetic screens in unrelated people who stutter and controls also suggested an increased burden of rare variants in GNPTG and NAGPA, two genes that function in the same enzymatic pathway as GNPTAB [9, 15]. In addition, three genome-wide association studies identified the first genome-wide significant loci associated with stuttering [16,17,18], indicating that this is a genetically complex multifactorial trait for at least some of the affected population.
- Population-based genetic effects for developmental stuttering - ScienceDirect
Meta-analysis of these genome-wide association studies identified a genome-wide significant (GWS) signal for clinically reported developmental stuttering in the general population: a protective variant in the intronic or genic upstream region of SSUH2 (rs113284510, protective allele frequency = 7.49%, Z = −5.576, p = 2.46 × 10−8) that acts as an expression quantitative trait locus (eQTL) in esophagus-muscularis tissue by reducing its gene expression. In addition, we identified 15 loci reaching suggestive significance (p < 5 × 10−6). This foundational population-based genetic study of a common speech disorder reports the findings of a clinically ascertained study of developmental stuttering and highlights the need for further research.
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