X‐Linked myopathy with excessive autophagy: A new hereditary muscle disease

Kalimo, Hannu; Savontaus, Marja‐Liisa; Lang, Heikki; Paljärvi, Leo; Sonninen, V.; Dean, Peter B.; Katevuo, K.; Salminen, Antero

doi:10.1002/ana.410230308

Cited by 121 publications

(82 citation statements)

References 23 publications

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“…There have been some reports suggesting the involvement of autophagic death in various diseases, since cells with autophagic features are found in the lesions of some neurodegenerative diseases, such as Parkinson disease and Alzheimer disease, 7,32,33 as well as in some forms of myopathy. 33,34,35 Conclusion and Future Prospects PCD does not seem to be confined to apoptosis. Recent studies, 8,9 although based on nonphysiological models, indicate that cells possess a mechanism of PCD that is associated with the formation of autophagosomes and depends on autophagy proteins -this is the true meaning of autophagic PCD.…”

Section: Role Of Autophagic Death In Physiological and Pathological Cmentioning

confidence: 99%

Another way to die: autophagic programmed cell death

2005

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Programmed cell death (PCD) is one of the important terminal paths for the cells of metazoans, and is involved in a variety of biological events that include morphogenesis, maintenance of tissue homeostasis, and elimination of harmful cells. Dysfunction of PCD leads to various diseases in humans, including cancer and several degenerative diseases. Apoptosis is not the only form of PCD. Recent studies have provided evidence that there is another mechanism of PCD, which is associated with the appearance of autophagosomes and depends on autophagy proteins. This form of cell death most likely corresponds to a process that has been morphologically defined as autophagic PCD. The present review summarizes recent experimental evidence about autophagic PCD and discusses some aspects of this form of cell death, including the mechanisms that may distinguish autophagic death from the process of autophagy involved in cell survival.

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Section: Role Of Autophagic Death In Physiological and Pathological Cmentioning

confidence: 99%

Another way to die: autophagic programmed cell death

2005

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“…The first family was reported by Kalimo et al in 1988 who described a new disorder characterised by a slowly progressive myopathy segregating as an X-linked recessive trait. 1 This condition was characterised by juvenile onset and slow progression of the disorder, which seems predominantly to affect proximal muscles. Upon histological studies, the muscle does not display acute necrosis but shows an excess of autophagic processes and exocytosis of the phagocytosed material.…”

Section: Introductionmentioning

confidence: 99%

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

et al. 2000

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X-linked myopathy with excessive autophagy (XMEA, MIM 310440) is a rare inherited mild myopathy. We have used 32 polymorphic markers spanning the entire X chromosome to exclude most of the chromosome except the Xq28 region in a large XMEA family. Using three additional families for linkage analysis, we have obtained a significant two-point lod score with marker DXS1183 (Z = 2.69 at θ = 0). Multipoint linkage analysis confirmed the assignment of the disease locus with a maximal lod score of 2.74 obtained at recombination fraction zero. Linkage of XMEA to the Xq28 region is thus firmly established. In addition, we have ruled out the Emery-Dreifuss muscular dystrophy to be allelic with XMEA by direct sequencing of the emerin gene in three of our families.

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“…1 It is caused by mutations of the VMA21 gene, which encodes the assembly chaperone of the V-ATPase proton pump that acidifies organelles. Autophagosomal alkalinization impairs autophagy completion, which drives autophagosome proliferation and apparent damage to skeletal muscle.…”

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confidence: 99%