lhon is a mitochondrial neurodegenerative disorder often manifesting itself in the second or third decade of life, and hence resulting in progressive central vision loss usually in a short period of 2-8 weeks within which different degrees of blindness may occur. etiologically, more than twenty missense mutations have been reported for lhon, amongst which the three mutations of g11778a, g3460a ...

Mutations in the mitochondrial-DNA or mitochondria related nuclear-encoded-DNA lead to various multisystemic disorders collectively termed mitochondrial diseases. One three cases of disease affects heart muscle, which is called cardiomyopathy (MCM) and associated with hypertrophic, dilated, noncompact cardiomyopathy. The an organ high energy demand, occupy 30%–40% its cardiomyocyte-cell volume....

the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or mater...

Mutations in mitochondrial DNA cause a number of neurological diseases with defined neuropathology; however, mutations in this genome have also been found to be important in a number of more common neurodegenerative diseases. In this review, the authors discuss the importance of mitochondrial DNA mutations in a number of different diseases and speculate how such mutations could lead to cell los...

Polymerase gamma is a mitochondrial DNA polymerase, that responsible for the replication of (mtDNA). It encoded by POLG gene, on chromosome 15q25. Various mutations in this gene have been described, with varied phenotypic manifestations. The triad sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) has reported only small group patients mutations. We report case male, who presen...

We study compact non-supersymmetric Z N orbifolds in various dimensions. We compute the spectrum of several tachyonic type II and heterotic examples and partially classify tachyon-free heterotic models. We also discuss the relation to compactification on K3 and Calabi-Yau manifolds.

The D-loop region is a hot spot for mitochondrial DNA (mtDNA) alterations, containing two hypervariable segments, HVS-I and HVS-II. In order to identify polymorphic sites and potential genetic background accounting for Hypertrophic CardioMyopathy (HCM) disease, the complete non-coding region of mtDNA from 31 unrelated HCM patients and 45 normal controls were sequenced. The sequences were aligne...

BACKGROUND Mitochondria are autonomous cellular organelles that oversee a variety of functions such as metabolism, energy production, calcium buffering, and cell fate determination. Most recently, mitochondrial dysfunction caused by mitochondrial mutations played important roles in the pathogenesis of asthma. However, the frequency of mitochondrial tRNA mutations in asthma is largely unknown. ...