Relationship of subcortical iron deposition and mitochondrial dysfunction in patients with idiopathic Parkinson’s disease
Objective: To investigate subcortical brain iron deposition as a potential predictor of the bioenergetic status in patients with idiopathic Parkinson's disease. Background: The underlying pathophysiology…Novel Recessive Mitochondrial Mutations Causing Leigh’s Syndrome and Movement Disorders
Objective: Describe discovery of novel mitochondrial mutations causing ataxia and dystonia syndromes with occurrence in childhood. Background: An African-American man at 5 years old subacutely…Genetic, biochemical and clinical findingss in Friedreich’s ataxia patients – relationship with the disease severity
Objective: To investigate the correlation of disease severity in terms of clinical, genetic and molecular parameters in FRDA. Background: : Friedreich ataxia (FRDA) is a…A novel POLG2 variant leads to disrupted mitochondrial integrity in a family with cerebellar ataxia and progressive ophthalmoplegia
Objective: To investigate the molecular consequences of a variant of unknown significance (VUS) in POLG2. Background: Mitochondrial DNA (mtDNA) is replicated by DNA polymerase gamma,…Perillyl alcohol restores mitochondrial dysfunction and abridge NLRP3 inflammasomes activation in in-vitro and in-vivo model of Parkinson’s disease
Objective: Parkinson's disease (PD) affects around 2-3% population of age greater than 65 and is the second most common neurogenerative disorder. The molecular mechanism underpinning…PARK2 p.Ala82Glu variant is not associated with Parkinson’s disease
Objective: The aim of the study was to analyze potential pathogenicity of the PARK2 p.Ala82Glu mutation, by functional studies of Parkin in the mitophagy paradigm…Loss of CHCHD2 and CHCHD10 disrupts mitochondrial cristae phenocopying patient mutations
Objective: Characterization of novel of a novel CHCHD2 (C2) and CHCHD10 (C10) knockout mouse model. Background: Dominant mutations in the mitochondrial paralogs CHCHD2 (C2) and…Poly-ADP-ribose polymerase 1 modulates mitochondrial fission via LRRK2 in a rotenone-induced Parkinson’s disease model
Objective: To clarity the effects and mechanism of poly-ADP-ribose polymerase 1(PARP1) in regulating mitochondrial fusion/fission in a rotenone-induced Parkinson's disease (PD) model. Background: Accumulating evidences…Mutations of COX20 affect the assembly and function of complex IV causing early onset ataxia, dystonia and neuropathy
Objective: To find the causes of an early onset complex movement disorder in two sisters from a non-consanguineous family, and confirm the COX20 variants responsible for such mitochondrial…The role of mitochondria in modifying penetrance of Parkin gene variants
Objective: To understand whether mitochondrial DNA (mtDNA) mutation load can modify the penetrance of variants in the Parkinson’s disease (PD) causing gene PRKN (Parkin), in…
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