A5076534715- Mitochondrial Function and Pathology
- Forensic and Genetic Research
- ATP Synthase and ATPases Research
- Genomics and Phylogenetic Studies
- Photosynthetic Processes and Mechanisms
- Trace Elements in Health
- Drug-Induced Ocular Toxicity
- Pharmacological Effects and Toxicity Studies
- Nail Diseases and Treatments
- Chemical synthesis and alkaloids
- Forensic Anthropology and Bioarchaeology Studies
- Molecular Biology Techniques and Applications
- Regulation of Appetite and Obesity
- Archaeology and ancient environmental studies
- Sphingolipid Metabolism and Signaling
- Infant Health and Development
- Pacific and Southeast Asian Studies
- Plant biochemistry and biosynthesis
- Cholinesterase and Neurodegenerative Diseases
- Hemoglobinopathies and Related Disorders
- Metabolism and Genetic Disorders
- Fungal Infections and Studies
- Evolution and Genetic Dynamics
- Adipose Tissue and Metabolism
- Biochemical Analysis and Sensing Techniques
Siriraj Hospital
2013-2024
Mahidol University
2013-2024
Mahidol Oxford Tropical Medicine Research Unit
2016
The human occupation history of Southeast Asia (SEA) remains heavily debated. Current evidence suggests that SEA was occupied by Hòabìnhian hunter-gatherers until ~4000 years ago, when farming economies developed and expanded, restricting foraging groups to remote habitats. Some argue agricultural development indigenous; others favor the "two-layer" hypothesis posits a southward expansion farmers giving rise present-day Asian genetic diversity. By sequencing 26 ancient genomes (25 from SEA,...
To investigate the role of mitochondrial DNA (mt DNA) background on expression Leber hereditary optic neuropathy (LHON) in Southeast Asian carriers G11778A mutation.Complete mtDNA sequences were analyzed from 53 unrelated LHON pedigrees Thailand and 105 normal Thai controls, haplogroups determined. Clinical phenotypes tested for association with haplogroup, adjustment potential confounders such as sex age at onset.mtDNA subhaplogroup B was significantly associated LHON. Follow-up analysis...
Leber's Hereditary Optic Neuropathy (LHON) is one of the commonest mitochondrial diseases. It causes total blindness, and predominantly affects young males. For disease to develop, it necessary for an individual carry primary mtDNA mutations 11778G>A, 14484T>C or 3460G>A. However these are not sufficient cause disease, they do explain characteristic features LHON such as higher prevalence in males, incomplete penetrance, relatively later age onset. In order explore roles nuclear encoded...
Obesity is a major worldwide health issue, with increasing prevalence in adults and children from developed developing countries. causes several chronic diseases, including cardiovascular respiratory osteoarthritis, hypertension, stroke, type II diabetes, obstructive sleep apnea, types of cancer. Previous genome-wide association studies have identified genes associated obesity, LEP, LEPR, POMC, PCSK1, FTO, MC3R, MC4R, GNPDA2, TMEM18, QPCTL/GIPR, BDNF, ETV5, MAP2K5/SKOR1, SEC16B, SIM1,...
Cyclic vomiting syndrome (CVS) is a functional gastrointestinal disorder characterized by recurrent stereotypic episodes of vomiting. The pathophysiology CVS remains obscure. Previous studies have supported the hypotheses mitochondrial dysfunction. However, data on association between DNA (mtDNA) polymorphisms and pediatric-onset are limited inconsistent. aims this study were to describe clinical characteristics, evaluate mtDNA 16519T 3010A with identify new candidate variants.This involved...
Abstract Two distinct population models have been put forward to explain present-day human diversity in Southeast Asia. The first model proposes long-term continuity (Regional Continuity model) while the other suggests two waves of dispersal (Two Layer model). Here, we use whole-genome capture combination with shotgun sequencing generate 25 ancient genome sequences from mainland and island Asia, directly test competing hypotheses. We find that early genomes Hoabinhian hunter-gatherer...
Background: Leber's hereditary optic neuropathy (LHON) is a prevalent mitochondrial disease that predominantly caused by (mtDNA) mutations. However, not all siblings with identical LHON mutations develop visual impairment, suggesting the influence of nuclear genetic variants. This study explores role these variants in expression among and relatives same maternal
This study aimed to explore clinical and molecular factors that cause discordance for expression of Leber's hereditary optic neuropathy (LHON) in a pair identical twins with the 14484 point mutation.Twin patients mutation were studied zygosity by using Short Tandem Repeats Typing system. For monozygotic twins, radioactive restriction densitometric analyses used quantitate heteroplasmy level mutation. The mitochondrial genome was analyzed determine influential deoxyribonucleic acid (DNA)...
Abstract Background Leber’s inherited optic neuropathy (LHON) is well known for incomplete penetrance. A pair of monozygotic twins carrying 14484T > C LHON mutation: one displayed characteristics (affected LHON) and the other twin was an unaffected carrier, were studied to identify possible modifier(s) manifestation. Methods Primary fibroblasts from affected with mutation treated different insults differentiate cellular phenotype between two fibroblasts. RNA sequencing indicated...