A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment

Apoptosis-Inducing Factor Mitochondria-associated-1 gene (AIFM1) encodes a mitochondrial flavin adenine dinucleotide-dependent nicotinamide oxidoreductase, which has a biological role in oxidative phosphorylation (OXPHOS) and in apoptosis pathway [1]. AIFM1 mutations have been reported to be associated with various neurological diseases, including Cowchock syndrome (OMIM 310490) [2], X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX4), X-linked deafness-5 (DFNX5; OMIM 300614) [3], and hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) [4].
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research

Related Links:

Publication date: Available online 25 January 2020Source: Biochimica et Biophysica Acta (BBA) - BioenergeticsAuthor(s): Ashlesha Kadam, Darshan Mehta, Tina Jubin, Mohmmad Shoab Mansuri, Rasheedunnisa BegumAbstractApoptosis Inducing Factor (AIF), a nuclear encoded mitochondrial inter-membrane space flavoprotein with intrinsic NADH oxidase activity, plays an important role in inducing cell death mechanisms. In response to cell death signals, it undergoes mitochondrio-nuclear translocation leading to DNA fragmentation. In addition to its role in cell death, AIF has a pro-survival role, wherein it contributes to the maintenanc...
Source: Biochimica et Biophysica Acta (BBA) Bioenergetics - Category: Biochemistry Source Type: research
Publication date: Available online 24 January 2020Source: Biochimica et Biophysica Acta (BBA) - BioenergeticsAuthor(s): Swetha Pavani Rao, Neelam Sharma, Shasi V. KalivendiAbstractParkinson's disease (PD) is a chronic neurodegenerative disease characterized by the death of dopamine neurons of Substantia nigra pars compacta (SNpc) leading to motor deficits. Amongst the mechanisms proposed, mitochondrial dysfunction, reduced complex-I and PGC1α levels were found to correlate with the pathology of PD. As embelin is a natural product with structural resemblance to ubiquinone, exhibits mitochondrial uncoupling and antioxi...
Source: Biochimica et Biophysica Acta (BBA) Bioenergetics - Category: Biochemistry Source Type: research
Source: Journal of Sports Sciences - Category: Sports Medicine Authors: Source Type: research
We examined whether Rhy promotes this regulation in bone marrow human mesenchymal stromal cells (BM-hMSCs). Results revealed (i) Rhy modulated biological activity by regulating the mitochondria, N-methyl-D-aspartate receptor subunit, and levels of FGFβ (basic fibroblast growth factor), BDNF (brain-derived neurotrophic factor), OXTR (oxytocin receptor) and ATP (Adenosine triphosphate); (ii) Rhy altered expression level of BM-MSC proliferation/differentiation-related transcription genes; and (iii) interestingly, Rhy amplified the glycolytic flow ratio and lactate dehydrogenase activity while reducing pyruvate dehydrogen...
Source: Cytotherapy - Category: Cytology Source Type: research
We report a 14 years-old young man with walked unstably, bilateral strephenopodia, severe alopecia and paroxysmal bilateral upper limbs tremor without obvious muscle atrophy. Diagnostic whole-exome sequencing revealed a hemizygote missense mutation c.278 T > A in exon 2 of the GJB1 gene, with lysine at position 93 of the mature protein (p.M93K). This is the first CMT case with alopecia areata reported in the world.
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
ConclusionThis titanium spacer seemed to have the potential of promoting bone union between the spacer and both lamina, and lateral mass in cervical laminoplasty which is a safe procedure with satisfactory clinical results.
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
CONCLUSIONS: Higher CAC scores were associated with higher odds of lacunar infarction, DSWMH, and ICAS. The presence and degree of CAC may be a useful indicator for SCVDs involving small and large vessels. PMID: 31969522 [PubMed - as supplied by publisher]
Source: Journal of Atherosclerosis and Thrombosis - Category: Cardiology Tags: J Atheroscler Thromb Source Type: research
A good friend of mine lent me his ’83 Westone semi-acoustic guitar. It’s a Japanese model, lovely to play, sounds great, it’s almost akin to the quality of the Gibson ES335 on which it is based, although obviously not quite as high quality, but probably a fifth or sixth of the price of those guitars new. Anyway, I gave it a good workout playing a load of classic riffage – Rush, Led Zeppelin, Black Sabbath, Jethro Tull, Cream, The Rolling Stones, The Beatles, David Bowie, even CHIC. It bears up to quite close aural scrutiny, I might hang on to it for a little while longer…
Source: David Bradley Sciencebase - Songs, Snaps, Science - Category: Science Authors: Tags: Sciencebase Source Type: blogs
Conclusions: Preliminary evidence links grandparental child care to elevated risk of childhood overweight/obesity, but not BMI z-scores. Future research should focus on a specific child age group within a country, adopt systematic and field-validated measures on grandparental child care, and elucidate the pathways linking grandparental child care to children's weight outcomes. PMID: 31971822 [PubMed - as supplied by publisher]
Source: Childhood Obesity - Category: Eating Disorders & Weight Management Tags: Child Obes Source Type: research
Publication date: 15 March 2020Source: Journal of Molecular Liquids, Volume 302Author(s): Ângela Sousa, Rúben Faria, Tânia Albuquerque, Himanshu Bhatt, Swati Biswas, João A. Queiroz, Diana CostaAbstractMitochondrial gene therapy can be seen as a promising tool and a revolutionary approach towards mitochondrial diseases arising from mitochondrial DNA mutations. The conception of a viable and suitable mitochondrial targeted vector is imperative to turn this therapy clinically feasible. To accomplish this goal, different molecular weight polyethylenimines (PEI) have been conjugated with the mitochond...
Source: Journal of Molecular Liquids - Category: Molecular Biology Source Type: research
More News: Audiology | Brain | Charcot-Marie-Tooth Disease | Deafness | Genetics | Japan Health | Leukodystrophies | Mitochondria | Mitochondrial Disease | Neurology