Casasnovas 2009 J Med Genet: Difference between revisions
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{{Publication | {{Publication | ||
|title=Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martínez-Matos JA, Bonneau D, Volpini V ( | |title=Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martínez-Matos JA, Bonneau D, Volpini V (2010) Phenotypic spectrum of MFN2 mutations in the Spanish population. J Med Genet 47:249-56. | ||
|info=[http://www.ncbi.nlm.nih.gov/pubmed/ | |info=[http://www.ncbi.nlm.nih.gov/pubmed/?term=19889647 PMID: 19889647] | ||
|authors=Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, | |authors=Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martinez-Matos JA, Bonneau D, Volpini V | ||
|year= | |year=2010 | ||
|journal=J Med Genet | |journal=J Med Genet | ||
|abstract=INTRODUCTION: The most common form of axonal Charcot-Marie-Tooth (CMT) disease is type 2A, caused by mutations in the mitochondrial GTPase mitofusin 2 (MFN2). | |abstract=INTRODUCTION: The most common form of axonal Charcot-Marie-Tooth (CMT) disease is type 2A, caused by mutations in the mitochondrial GTPase mitofusin 2 (MFN2). | ||
| Line 15: | Line 15: | ||
CONCLUSION: It is concluded that mutations in MFN2 are the most frequent cause of CMT2 in this region. The Arg468His mutation was the most prevalent (6/14 families), and our study confirms that it is pathological, presenting as a neuropathy in a mild to moderate degree. This study also demonstrates the value of MFN2 studies in cases of congenital axonal neuropathy, especially in cases of dominant inheritance, severe clinical symptoms or additional symptoms such as optic atrophy. | CONCLUSION: It is concluded that mutations in MFN2 are the most frequent cause of CMT2 in this region. The Arg468His mutation was the most prevalent (6/14 families), and our study confirms that it is pathological, presenting as a neuropathy in a mild to moderate degree. This study also demonstrates the value of MFN2 studies in cases of congenital axonal neuropathy, especially in cases of dominant inheritance, severe clinical symptoms or additional symptoms such as optic atrophy. | ||
|keywords=Charcot-Marie-Tooth (CMT) disease, MFN2 mutations, Arg468His mutation, Congenital axonal neuropathy | |keywords=Charcot-Marie-Tooth (CMT) disease, MFN2 mutations, Arg468His mutation, Congenital axonal neuropathy | ||
|mipnetlab= | |mipnetlab=FR Angers Gueguen N | ||
}} | }} | ||
{{Labeling | {{Labeling | ||
|area=Respiration, nDNA;cell genetics, mt-Medicine, Patients | |||
|diseases=Inherited, Neurodegenerative | |||
|organism=Human | |||
|tissues=Nervous system, Fibroblast | |||
|preparations=Intact cells | |||
|enzymes=Complex II;succinate dehydrogenase | |||
|topics=ADP, Coupling efficiency;uncoupling | |||
|instruments=Oxygraph-2k | |instruments=Oxygraph-2k | ||
}} | }} | ||
Latest revision as of 12:37, 16 February 2018
» [[Has info::PMID: 19889647]]
Was written by::Casasnovas C, Was written by::Banchs I, Was written by::Cassereau J, Was written by::Gueguen N, Was written by::Chevrollier A, Was written by::Martinez-Matos JA, Was written by::Bonneau D, Was written by::Volpini V (Was published in year::2010) Was published in journal::J Med Genet
Abstract: [[has abstract::INTRODUCTION: The most common form of axonal Charcot-Marie-Tooth (CMT) disease is type 2A, caused by mutations in the mitochondrial GTPase mitofusin 2 (MFN2).
OBJECTIVE: The objective of our study is to establish the incidence of MFN2 mutations in a cohort of Spanish patients with axonal CMT neuropathy.
MATERIAL AND METHODS: Eighty-five families with suspected axonal CMT were studied. All MFN2 exons were studied through direct sequencing. A bioenergetics study in fibroblasts was conducted using a skin biopsy taken from a patient with an Arg468His mutation.
RESULTS: Twenty-four patients from 14 different families were identified with nine different MFN2 mutations (Arg94Trp, Arg94Gln, Ile203Met, Asn252Lys, Gln276His, Gly296Arg, Met376Val, Arg364Gln and Arg468His). All mutations were found in the heterozygous state and four of these mutations had not been described previously. MFN2 mutations were responsible for CMT2 in 16% +/- 7% of the families studied and in 30.8 +/- 14.2% (12/39) of families with known dominant inheritance. The bioenergetic studies in fibroblasts show typical results of MFN2 patients with a mitochondrial coupling defect (ATP/O) and an increase of the respiration rate linked to Complex II.
CONCLUSION: It is concluded that mutations in MFN2 are the most frequent cause of CMT2 in this region. The Arg468His mutation was the most prevalent (6/14 families), and our study confirms that it is pathological, presenting as a neuropathy in a mild to moderate degree. This study also demonstrates the value of MFN2 studies in cases of congenital axonal neuropathy, especially in cases of dominant inheritance, severe clinical symptoms or additional symptoms such as optic atrophy.]] • Keywords: has publicationkeywords::Charcot-Marie-Tooth (CMT) disease, has publicationkeywords::MFN2 mutations, has publicationkeywords::Arg468His mutation, has publicationkeywords::Congenital axonal neuropathy
• O2k-Network Lab: Was published by MiPNetLab::FR Angers Gueguen N
Labels: MiParea: MiP area::Respiration, MiP area::nDNA;cell genetics, MiP area::mt-Medicine, MiP area::Patients
Pathology: Diseases::Inherited, Diseases::Neurodegenerative
Organism: Organism::Human Tissue;cell: tissue and cell::Nervous system, tissue and cell::Fibroblast Preparation: Preparation::Intact cells Enzyme: Enzyme::Complex II;succinate dehydrogenase Regulation: Topic::ADP, Topic::Coupling efficiency;uncoupling
HRR: Instrument and method::Oxygraph-2k
