A Missense Variant in AIFM1 Caused Mitochondrial Dysfunction and Intolerance to Riboflavin Deficiency

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
AIFM1   mitochondria   riboflavin   apoptosis   ataxia   neuropathy  

Missense Mutation in AIFM1 Gene Leads to Mitochondrial Dysfunction and Riboflavin Deficiency Intolerance Research Background Mitochondria are double-membrane organelles found in eukaryotic cells with nuclei, primarily producing adenosine triphosphate (ATP) through oxidative phosphorylation to provide cellular energy. Mitochondria have their own gen...

Somatic CAG Repeat Instability in Intermediate Alleles of the HTT Gene and its Potential Association with a Clinical Phenotype

Medicine, Neurology, Life Sciences, Cell Biology, Genetics,
Huntington Disease   CAG Repeat   Somatic Instability   Intermediate Alleles   Neurocognitive Symptoms  

Potential Association between Somatic CAG Repeat Instability in HTT Intermediate Alleles and Clinical Phenotype Research Background Huntington’s disease (HD) is a neurodegenerative disorder caused by the expansion of CAG trinucleotide repeats (≥36 CAG repeats) in the HTT gene. Intermediate alleles (IAs) with 27-35 CAG repeats are generally not cons...

Widespread Exclusive Yin Yang Haplotypes in the Human Genome

Life Sciences, Cell Biology, Biochemistry, Genetics,
human genome   yin yang haplotypes   genetic variation   gene association   systematic search  

Unique Yin Yang Haplotypes Widely Present in the Human Genome Research Background In genomic studies, yin yang haplotypes refer to pairs of haplotypes that differ at every site. While previous independent reports have indicated the existence of unique yin yang haplotypes, no systematic search had been conducted. Therefore, to better understand the ...

Loss-of-function mutation of the ADNP gene causes Helsmoortel-van der Aa syndrome

Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
ADNP   Helsmoortel-van der Aa syndrome   mutation   whole-genome sequencing   episignature  

Based on the research of Helsmoortel-Van der Aa syndrome (HVDAS) caused by ADNP gene mutations, D’Incal et al. published an in-depth research paper in the European Journal of Human Genetics. Through a case study of a five-year-old girl, the team discovered a three-base pair deletion at the splice acceptor site of the first coding exon of ADNP. This...

Genetic Heterogeneity in Hereditary Hearing Loss: Potential Role of Kinociliary Protein TOGARAM2

Medicine, Basic Medical Sciences, Life Sciences, Cell Biology, Biochemistry, Genetics,
Genetic Heterogeneity   Hereditary Hearing Loss   TOGARAM2   Candidate Gene   Bioinformatics Analysis   Cochlear Hair Cells   Dual Hearing Loss  

Genetic Diversity in Hereditary Hearing Loss: The Potential Role of KINOCILIARY Protein TOGARAM2 Background Hearing Loss (HL) is a feature with multiple causes, and currently, research has identified pathogenic variants in over 200 genes associated with HL. Despite extensive research, the causative factor remains unidentified in more than one-third...

Loss of TBC1D2B Causes a Progressive Neurological Disorder with Gingival Overgrowth

Medicine, Oral Sciences, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
TBC1D2B gene   neurological disorder   gingival overgrowth   genetic syndrome   autophagy defect   neurodegenerative disease  

Progressive neurological disease with gingival hyperplasia due to TBC1D2B gene deficiency Background Introduction In recent years, with the rapid development of genomic technologies, scientists have gained deeper insights into the relationship between genetic variations and human diseases. Increasingly, research has revealed the important role thes...