Epigenetics and Pharmacoepigenetics of Neurodevelopmental and Neuropsychiatric Disorders

Cacabelos, Ramón

doi:10.1016/b978-0-12-813939-4.00022-x

Cited by 8 publications

(4 citation statements)

References 420 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Since few CNS drugs have been approved for the past decade, classical PGx studies with psychotropic drugs remain valuable for drug use optimization [11,12,19,27,160]. Pretreatment PGx testing is highly recommended in major neuropsychiatric disorders such as schizophrenia, depression, bipolar disorders, panic disorder, autism spectrum disorder, epilepsy, and neurodegenerative disorders (Alzheimer's disease, Parkinson's disease), which require long-term, toxic treatments [11,12,19,[160][161][162][163][164][165][166][167]. CNS drugs can act as substrates, inhibitors or inducers of enzymes encoded by metabolic genes.…”

Section: Central Nervous System Disordersmentioning

confidence: 99%

Genophenotypic Factors and Pharmacogenomics in Adverse Drug Reactions

Cacabelos

Naidoo

Corzo

et al. 2021

IJMS

Self Cite

View full text Add to dashboard Cite

Adverse drug reactions (ADRs) rank as one of the top 10 leading causes of death and illness in developed countries. ADRs show differential features depending upon genotype, age, sex, race, pathology, drug category, route of administration, and drug–drug interactions. Pharmacogenomics (PGx) provides the physician effective clues for optimizing drug efficacy and safety in major problems of health such as cardiovascular disease and associated disorders, cancer and brain disorders. Important aspects to be considered are also the impact of immunopharmacogenomics in cutaneous ADRs as well as the influence of genomic factors associated with COVID-19 and vaccination strategies. Major limitations for the routine use of PGx procedures for ADRs prevention are the lack of education and training in physicians and pharmacists, poor characterization of drug-related PGx, unspecific biomarkers of drug efficacy and toxicity, cost-effectiveness, administrative problems in health organizations, and insufficient regulation for the generalized use of PGx in the clinical setting. The implementation of PGx requires: (i) education of physicians and all other parties involved in the use and benefits of PGx; (ii) prospective studies to demonstrate the benefits of PGx genotyping; (iii) standardization of PGx procedures and development of clinical guidelines; (iv) NGS and microarrays to cover genes with high PGx potential; and (v) new regulations for PGx-related drug development and PGx drug labelling.

show abstract

Section: Central Nervous System Disordersmentioning

confidence: 99%

Genophenotypic Factors and Pharmacogenomics in Adverse Drug Reactions

Cacabelos

Naidoo

Corzo

et al. 2021

IJMS

Self Cite

View full text Add to dashboard Cite

show abstract

Section: Central Nervous System Disordersmentioning

confidence: 99%

Sikap, Pengetahuan, dan Praktik Mahasiswa Fakultas Kedokteran Universitas YARSI Tentang Farmakogenomik

Jakaria,

Yuliwulandari

2023

junior.med.j

View full text Add to dashboard Cite

Pendahuluan: Farmakogenomik berguna mengamati pengaruh seluruh genom terhadap respons obat pada terapi yang bertujuan untuk meningkatkan kemanjuran obat dan meminimalkan toksisitas obat. Tujuan kami adalah untuk mengetahui pengetahuan, sikap dan praktik mahasiswa Fakultas Kedokteran universitas YARSI mengernai farmakogenomik. Metodologi: Kami menggunakan studi cross sectional yang dilakukan pada 262 mahasiswa aktif Fakultas Kedokteran universitas YARSI tahun ajaran pertama hingga ketiga. Kuesioner terstruktur yang telah divalidasi dan diuji coba diberikan kepada responden untuk menilai pengetahuan, sikap, dan praktik mereka mengenai farmakogenomik. Analisis univariat dan bivariat digunakan untuk menggambarkan hasil penelitian. Hasil: Sebanyak 262 mahasiswa (74,4% perempuan dan 25,6% laki-laki) menanggapi survei ini. Banyak pengetahuan dan sikap mahasiswa untuk farmakogenomik sudah tergolong baik dengan nilai 98,09% dan 81,7%. Sedangkan pada praktik terhadap farmakogenomik masih tergolong buruk, yaitu dengan nilai 84%. Simpulan: Jadi pada penelitian ini, mahasiswa sudah memiliki tingkat pengetahuan dan sikap yang baik terhadap farmakogenomik. Akan tetapi, praktik mahasiswa terhadap farmakogenomik masih harus diperbaiki agar di masa depan implementasi farmakogenomik dapat lebih berkembang.

show abstract

“…USH type 2 (USH2), the most common type, accounting for over 50% of USH syndrome cases, is typically characterized by congenital moderate-to-severe hearing loss and a normal vestibular response. Approximately 80% of USH2 cases are caused by mutations of the USH2A gene, which is mapped to chromosome 1q41 and comprises about 15 kb of the DNA coding sequence, containing 72 exons that encode usherin [5][6][7]. Usherin is a ciliary transmembrane protein that includes laminin epidermal growth factor motifs, a transmembrane domain, and repeats of fibronectin type-III motifs.…”

Section: Introductionmentioning

confidence: 99%

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population

Lin,

Huang,

Lin

et al. 2024

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background Biallelic pathogenic variants in USH2A lead to Usher syndrome or non-syndromic retinitis pigmentosa, and shown to have geographical and ethnical distribution in previous studies. This study provided a deeper understanding of the detailed clinical features using multimodal imaging, genetic spectrum, and genotype–phenotype correlations of USH2A-related retinal dystrophies in Taiwan. Results In our cohort, the mean age at first visit was 47.66 ± 13.54 years, and the mean age at symptom onset, which was referred to the onset of nyctalopia and/or visual field constriction, was 31.21 ± 15.24 years. Among the variants identified, 23 (50%) were missense, 10 (22%) were splicing variants, 8 (17%) were nonsense, and 5 (11%) were frameshift mutations. The most predominant variant was c.2802T>G, which accounted for 21% of patients, and was located in exon 13. Patients with truncated alleles had significantly earlier symptom onset and seemly poorer disease progression regarding visual acuity, ellipsoid zone line length, and hypofluorescent lesions in the macula than those who had the complete gene. However, the clinical presentation revealed similar progression between patients with and without the c.2802T>G variant. During long-term follow-up, the patients had different ellipsoid zone line progression rates and were almost evenly distributed in the fast, moderate, and slow progression subgroups. Although a younger onset age and a smaller baseline intact macular area was observed in the fast progression subgroup, the results showed no significant difference. Conclusions This is the first cohort study to provide detailed genetic and longitudinal clinical analyses of patients with USH2A-related retinal dystrophies in Taiwan. The mutated allele frequency in exon 13 was high in Taiwan due to the predominant c.2802T>G variant. Moreover, truncated variants greatly impacted disease progression and determined the length of therapeutic windows. These findings provide insight into the characteristics of candidates for future gene therapies.

show abstract

Epigenetics and Pharmacoepigenetics of Neurodevelopmental and Neuropsychiatric Disorders

Cited by 8 publications

References 420 publications

Genophenotypic Factors and Pharmacogenomics in Adverse Drug Reactions

Genophenotypic Factors and Pharmacogenomics in Adverse Drug Reactions

Sikap, Pengetahuan, dan Praktik Mahasiswa Fakultas Kedokteran Universitas YARSI Tentang Farmakogenomik

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population

Contact Info

Product

Resources

About