The impact of Pompe disease on smooth muscle: a review

Journal of Smooth Muscle Research = Nihon Heikatsukin Gakkai Kikanshi
Angela L McCallMai K ElMallah

Abstract

Pompe disease (OMIM 232300) is an autosomal recessive disorder caused by mutations in the gene encoding acid α-glucosidase (GAA) (EC 3.2.1.20), the enzyme responsible for hydrolyzing lysosomal glycogen. The primary cellular pathology is lysosomal glycogen accumulation in cardiac muscle, skeletal muscle, and motor neurons, which ultimately results in cardiorespiratory failure. However, the severity of pathology and its impact on clinical outcomes are poorly described in smooth muscle. The advent of enzyme replacement therapy (ERT) in 2006 has improved clinical outcomes in infantile-onset Pompe disease patients. Although ERT increases patient life expectancy and ventilator free survival, it is not entirely curative. Persistent motor neuron pathology and weakness of respiratory muscles, including airway smooth muscles, contribute to the need for mechanical ventilation by some patients on ERT. Some patients on ERT continue to experience life-threatening pathology to vascular smooth muscle, such as aneurysms or dissections within the aorta and cerebral arteries. Better characterization of the disease impact on smooth muscle will inform treatment development and help anticipate later complications. This review summarizes the publishe...Continue Reading

References

Apr 1, 1977·The Australian Journal of Experimental Biology and Medical Science·R D JollyP R Dorling
Jan 1, 1975·Journal of Comparative Pathology·B W Manktelow, W J Hartley
Jul 1, 1991·Journal of Neurology, Neurosurgery, and Psychiatry·A M ChancellorD M Broadhead
Sep 1, 1990·Journal of the Neurological Sciences·H A KretzschmarP Mehraein
Mar 1, 1987·Muscle & Nerve·J D van der WaltE L Cox
Jul 1, 1988·Journal of Neurology·Y MatsuokaA Takahashi
Nov 1, 1987·Annals of Neurology·M M MakosD R Bennett
Jan 1, 1985·Journal of Inherited Metabolic Disease·H C WalvoortT S van den Ingh
Nov 1, 1985·Acta Pathologica Japonica·Y MiyamotoM Morimatsu
Dec 15, 1973·Lancet·B G KousseffK Hirschhorn
May 9, 1970·Lancet·G HugS Soukup
Jan 1, 1983·Journal of Inherited Metabolic Disease·H C Walvoort
Oct 31, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·N G BeratisS L Sklower
Aug 1, 1981·The Journal of Pathology·J M HowellJ M Gawthorne
Feb 28, 1998·Human Molecular Genetics·A G BijvoetA T van der Ploeg
Aug 10, 2000·The Journal of Pediatrics·A E SlonimF Martiniuk
Sep 6, 2000·Lancet·H Van den HoutA T Van der Ploeg
Oct 16, 2002·Chest·Steven J TrottierBryan R Troop
Nov 25, 2003·Advances in Physiology Education·R Clinton Webb
Mar 10, 2004·Molecular Therapy : the Journal of the American Society of Gene Therapy·Cathryn MahBarry J Byrne
May 4, 2004·Pediatrics·Johanna M P Van den HoutAns T Van der Ploeg
May 12, 2004·Chest·Bernard G FikkersJohannes G van der Hoeven
Jan 22, 2005·Brain : a Journal of Neurology·M L C HagemansA T Van der Ploeg
Feb 17, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Deborah Marsden
Sep 1, 2005·Journal of Neurology·Léon P F WinkelAns T van der Ploeg
Mar 15, 2006·Annals of Neurology·Tokiko FukudaNina Raben
May 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·UNKNOWN ACMG Work Group on Management of Pompe DiseaseMichael S Watson
Jun 2, 2006·The Journal of Pediatrics·Priya S KishnaniUNKNOWN Infantile-Onset Pompe Disease Natural History Study Group
Jul 29, 2006·Autophagy·Tokiko FukudaNina Raben
Nov 1, 2006·Laboratory Investigation; a Journal of Technical Methods and Pathology·Beth L ThurbergMichael O'Callaghan
Nov 7, 2006·International Journal of Cardiology·Attila NemesFolkert J ten Cate

❮ Previous
Next ❯

Citations

Jul 13, 2019·Human Gene Therapy·Pasqualina Colella, Federico Mingozzi
Jun 23, 2019·Human Molecular Genetics·Priya S KishnaniDwight D Koeberl
Sep 24, 2020·Biomolecules·Naresh K Meena, Nina Raben
Mar 28, 2020·International Journal of Molecular Sciences·Anna F FuscoMai K ElMallah
May 8, 2020·Cells·Purvi C TrivediThomas Pulinilkunnil
Oct 18, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Enricomaria MorminaAntonio Toscano
Jan 3, 2021·Neuromuscular Disorders : NMD·H A van KootenP A van Doorn
Feb 14, 2021·Neuroscience and Biobehavioral Reviews·Anthony Tucker-BartleyJaymin Upadhyay
Apr 23, 2021·Journal of Smooth Muscle Research = Nihon Heikatsukin Gakkai Kikanshi·Angela L McCallMai K ElMallah
Aug 24, 2021·Cardiology in the Young·Barry J ByrneUNKNOWN Pompe ADVANCE Study Consortium

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsies

Software Mentioned

OpenLab

Related Concepts

Related Feeds

Aneurysm

Aneurysms are outward distensions or bulges that occurs in a weakened wall of blood vessels. Discover the latest research on aneurysms here.