当前位置： SCI文献检索 > JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY期刊下所有文献 > Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy.

Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy.

Abstract：

:Nemaline myopathy is the most common congenital myopathy and is caused by mutations in various genes such as ACTA1 (encoding skeletal α-actin). It is associated with limb and respiratory muscle weakness. Despite increasing clinical and scientific interest, the molecular and cellular events leading to such weakness remain unknown, which prevents the development of specific therapeutic interventions. To unravel the potential mechanisms involved, we dissected lower limb and diaphragm muscles from a knock-in mouse model of severe nemaline myopathy expressing the ACTA1 His40Tyr actin mutation found in human patients. We then studied a broad range of structural and functional characteristics assessing single-myofiber contraction, protein expression, and electron microscopy. One of the major findings in the diaphragm was the presence of numerous noncontractile areas (including disrupted sarcomeric structures and nemaline bodies). This greatly reduced the number of functional sarcomeres, decreased the force generation capacity at the muscle fiber level, and likely would contribute to respiratory weakness. In limb muscle, by contrast, there were fewer noncontractile areas and they did not seem to have a major role in the pathogenesis of weakness. These divergent muscle-specific results provide new important insights into the pathophysiology of severe nemaline myopathy and crucial information for future development of therapeutic strategies.

journal_name

J Neuropathol Exp Neurol

journal_title

Journal of neuropathology and experimental neurology

authors

Lindqvist J,Cheng AJ,Renaud G,Hardeman EC,Ochala J

doi

10.1097/NEN.0b013e318293b1cc

subject

Has Abstract

pub_date

2013-06-01 00:00:00

pages

472-81

issue

6

eissn

0022-3069

issn

1554-6578

journal_volume

72

pub_type

杂志文章

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