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Diagnosis of Parkinson’s disease (PD) is often problematic because clinically it can be difficult to distinguish idiopathic PD from the other extrapyramidal disorders. It is known, that PD is caused either by environmental and genetic factors . Genetic mutations are the cause of familial form of PD and include genes PARK1-PARK18. The etiology of sporadic PD (SPD) is still not clear, but it is currently...
Mitochondrial homeostasis, resulting from fusion and fission processes together with mitophagy and mitogenesis, are widely studied nowadays. This is probably because we know more and more about the role of mitochondria in metabolic diseases (diabetes, hypertension), neurodegeneration (Parkinson’s Disease, Alzheimer’s Disease), but also in broad spectrum of inherited neurological syndromes (CharcotMarie-Tooth)...
The methyl CpG binding protein 2 (MECP2), protein that binds to methylated DNA sequences and represses the expression of specific genes, is essential for normal function of mature nerve cells. The protein is encoded by MECP2 gene and its mutations are responsible for approximately 90% of all Rett syndrome (RTT) cases. RTT is a neurodevelopmental disorder that affects mainly girls. Its characteristic...
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