Jiraanont, Poonnada

Preferred name

Jiraanont, Poonnada

Main Affiliation

Faculty of Medicine

poonnada.ji@kmitl.ac.th

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De Novo Large Deletion Leading to Fragile X Syndrome
(2022-05-11)
Jiraanont, Poonnada
;
Manor, Esther
;
Tabatadze, Nazi
;
Zafarullah, Marwa
;
Mendoza, Guadalupe
Fragile X syndrome (FXS) is the most frequent cause of X-linked inherited intellectual disabilities (ID) and the most frequent monogenic form of autism spectrum disorders. It is caused by an expansion of a CGG trinucleotide repeat located in the 5′UTR of the FMR1 gene, resulting in the absence of the fragile X mental retardation protein, FMRP. Other mechanisms such as deletions or point mutations of the FMR1 gene have been described and account for approximately 1% of individuals with FXS. Here, we report a 7-year-old boy with FXS with a de novo deletion of approximately 1.1 Mb encompassing several genes, including the FMR1 and the ASFMR1 genes, and several miRNAs, whose lack of function could result in the observed proband phenotypes. In addition, we also demonstrate that FMR4 completely overlaps with ASFMR1, and there are no sequencing differences between both transcripts (i.e., ASFMR1/FMR4 throughout the article).
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FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation
(2024-06-01)
Jiraanont, Poonnada
;
Zafarullah, Marwa
;
Sulaiman, Noor
;
Espinal, Glenda M.
;
Randol, Jamie L.
Fragile X syndrome (FXS) is the most common heritable form of intellectual disability and is caused by CGG repeat expansions exceeding 200 (full mutation). Such expansions lead to hypermethylation and transcriptional silencing of the fragile X messenger ribonucleoprotein 1 (FMR1) gene. As a consequence, little or no FMR1 protein (FMRP) is produced; absence of the protein, which normally is responsible for neuronal development and maintenance, causes the syndrome. Previous studies have demonstrated the causal relationship between FMRP levels and cognitive abilities in peripheral blood mononuclear cells (PBMCs) and dermal fibroblast cell lines of patients with FXS. However, it is arguable whether PBMCs or fibroblasts would be the preferred surrogate for measuring molecular markers, particularly FMRP, to represent the cognitive impairment, a core symptom of FXS. To address this concern, CGG repeats, methylation status, FMR1 mRNA, and FMRP levels were measured in both PBMCs and fibroblasts derived from 66 individuals. The findings indicated a strong association between FMR1 mRNA expression levels and CGG repeat numbers in PBMCs of premutation males after correcting for methylation status. Moreover, FMRP expression levels from both PBMCs and fibroblasts of male participants with a hypermethylated full mutation and with mosaicism demonstrated significant association between the intelligence quotient levels and FMRP levels, suggesting that PBMCs may be preferable for FXS clinical studies, because of their greater accessibility.
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The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation
(2026-03-01)
Jiraanont, Poonnada
;
Wang, Jun Yi
;
Durbin-Johnson, Blythe
;
Hwang, Ye Hyun
;
Hessl, David
AbstractFragile X-associated tremor/ataxia syndrome (FXTAS), caused by the FMR1 premutation allele, is associated with brain degeneration, yet the mechanisms behind this neurodegeneration still need to be elucidated. Apoε polymorphism has been widely implicated in brain aging in cognitively healthy individuals and brain deterioration in Alzheimer's disease. This study aimed to examine the interaction of Apoε genotypes, FXTAS clinical symptoms, FMR1 molecular measures, and age, towards brain pathophysiology and cognitive functions.This longitudinal study includes MRI data collected from 205 male premutation carriers with and without FXTAS clinical symptoms and compared to 86 healthy male controls aged 40–85 years. The investigation includes FXTAS-related brain volumes, IQ, self-control behaviors, FMR1 molecular measures, and Apoε genotypes.In carriers with FXTAS, the presence of the Apoε2 allele showed a possible association with more favorable neuroimaging markers, such as reduced white matter hyperintensities, and lower incidence of the middle cerebellar peduncle sign, patterns that were not observed in carriers without FXTAS.Specifically, the presence of Apoε2 allele exhibited a potential protective effect on brain degeneration, and cognitive functions among FXTAS patients; on the contrary, the Apoε4 allele was associated with a worsening of brain volume and brain degeneration in carriers with no FXTAS symptoms. The identification of Apoε genotypes in FMR1 premutation carriers before any clinical symptoms of FXTAS are observed may improve symptomatic management leading to better outcomes for these individuals.
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Population-based FMR1 carrier screening among reproductive women
(2024-11-01)
Ain, Quratul
;
Hwang, Ye Hyun
;
Yeung, Daryl
;
Panpaprai, Pacharee
;
Iamurairat, Wiwat
Purpose: Fragile X syndrome (FXS) is a neurodevelopmental disorder, caused by an CGG repeat expansion (FM, > 200 CGG) in the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Female carriers of a premutation (PM; 55–200 CGG) can transmit the PM allele, which, depending on the CGG allele size, can expand to an allele in the FM range in the offspring. Methods: Carrier screening for FMR1 PM is not available in Thailand. This study aimed to investigate the prevalence of PM carriers among Thai reproductive women at the tertiary hospital. A total of 1250 females participated in this study; ages ranged from 20 to 45 years, mean of 30 years (S.D. = 6.27). Results: Two carriers of a premutation allele, with 32,62 and 32,69 CGG repeats respectively, were identified. This corresponds to 1 in 600 women or 0.17% of the population. Further, three women carrying a gray zone allele (45–54 CGG repeats) were identified (29,51; 29,49; and 30,47 CGG repeats) which equals to 1:400 women or 0.25% of the population. No FM case was detected. Conclusions: This study heightens the importance of PM carrier screening of women of reproductive age, particularly for the higher risk of developing fragile X–associated primary ovarian insufficiency (FXPOI). Early identification of PM carrier status enhances family planning and fecundity alternatives and improves reproductive health outcomes leading to a better life.
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Acceptance and attitudes towards carrier and prenatal screening for fragile X syndrome among reproductive-aged Thai women: a cross-sectional study
(2026-01-01)
Tassanakijpanich, Nattaporn
;
Chumchuen, Kemmapon
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Panpaprai, Pacharee
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Iamurairat, Wiwat
;
Chutimongkonkul, Wiboon
Objectives: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability, but Thailand lacks a carrier screening programme. We assessed knowledge, attitudes, and acceptance of FXS carrier and prenatal screening among reproductive-aged Thai women, exploring socio-demographic correlates. Methods: This study was conducted at a drop-in clinic, Department of Obstetrics and Gynecology of a Tertiary Hospital, where eligible women watched a 3-min educational video, and then completed a questionnaire evaluating knowledge, screening acceptance, and four attitude domains (disclosure, policy, relationship, pregnancy continuation). Ordinal logistic regression analysed socio-demographic associations. Results: Post-video, 87% of 772 women understood FXS well. Acceptance was substantial: 82% for carrier screening and 95% for prenatal investigation. Higher education was associated with greater knowledge (adjusted odds ratio [aOR] = 1.66, 95% confidence interval [CI]: 1.23–2.23) and policy support (aOR = 1.83, 95% CI: 1.35–2.48). Older age was associated with lower knowledge (aOR = 0.98, 95% CI: 0.96–1.00), disclosure intent (aOR = 0.98, 95% CI: 0.96–1.00), and agreement in continuing an affected pregnancy (aOR = 0.97, 95% CI: 0.95–0.99). Conclusion: Brief educational interventions can support informed acceptance of FXS screening. To support the diverse reproductive options, Thailand should implement publicly funded voluntary screening with culturally sensitive genetic counselling.
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Molecular Biomarkers Predictive of Sertraline Treatment Response in Young Children With Autism Spectrum Disorder
(2020-04-15)
Alolaby, Reem Rafik
;
Jiraanont, Poonnada
;
Durbin-Johnson, Blythe
;
Jasoliya, Mittal
;
Tang, Hiu Tung
Sertraline is one among several selective serotonin reuptake inhibitors (SSRIs) that exhibited improvement of language development in Autism Spectrum Disorder (ASD); however, the molecular mechanism has not been elucidated. A double blind, randomized, 6-month, placebo-controlled, clinical trial of low-dose sertraline in children ages (3–6 years) with ASD was conducted at the UC Davis MIND Institute. It aimed at evaluating the efficacy and benefit with respect to early expressive language development and global clinical improvement. This study aimed to identify molecular biomarkers that might be key players in the serotonin pathway and might be predictive of a clinical response to sertraline. Fifty eight subjects with the diagnosis of ASD were randomized to sertraline or placebo. Eight subjects from the sertraline arm and five from the placebo arm discontinued from the study. Furthermore, four subjects did not have a successful blood draw. Hence, genotypes for 41 subjects (20 on placebo and 21 on sertraline) were determined for several genes involved in the serotonin pathway including the serotonin transporter-linked polymorphic region (5-HTTLPR), the tryptophan hydroxylase 2 (TPH2), and the Brain-Derived Neurotrophic Factor (BDNF). In addition, plasma levels of BDNF, Matrix metallopeptidase 9 (MMP-9) and a selected panel of cytokines were determined at baseline and post-treatment. Intent-to-treat analysis revealed several primary significant correlations between molecular changes and the Mullen Scales of Early Learning (MSEL) and Clinical Global Impression Scale – Improvement (CGI-I) of treatment and control groups but they were not significant after adjustment for multiple testing. Thus, sertraline showed no benefit for treatment of young children with ASD in language development or changes in molecular markers in this study. These results indicate that sertraline may not be beneficial for the treatment of children with ASD; however, further investigation of larger groups as well as longer term follow-up studies are warranted.

Jiraanont, Poonnada

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