Abnormal epiphyseal development in a feline model of Sandhoff disease.

Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society
Margaret A McNultyCathy S Carlson

Abstract

Sandhoff disease (SD) is caused by decreased function of the enzyme β-N-acetylhexosaminidase, resulting in accumulation of GM2 ganglioside in tissues. Neural tissue is primarily affected and individuals with the infantile form of the disease generally do not survive beyond 4 years of age. Current treatments address neurometabolic deficits to improve lifespan, however, this extended lifespan allows clinical disease to become manifest in other tissues, including the musculoskeletal system. The impact of SD on bone and joint tissues has yet to be fully determined. In a feline model of infantile SD, animals were treated by intracranial injection of adeno-associated virus vectors to supply the central nervous system with corrective levels of hexosaminidase, resulting in a twofold to threefold increase in lifespan. As treated animals aged, signs of musculoskeletal disease were identified. The present study characterized bone and joint lesions from affected cats using micro-computed tomography and histology. All affected cats had similar lesions, whether or not they were treated. SD cats displayed a significant reduction in metaphyseal trabecular bone and markedly abnormal size and shape of epiphyses. Abnormalities increased in severi...Continue Reading

References

Feb 15, 1997·The Journal of Clinical Investigation·A C CrawleyJ J Hopwood
Apr 15, 2004·Experimental Neurology·Douglas R MartinHenry J Baker
May 4, 2004·Research in Veterinary Science·A DeLaurierJ S Price
Dec 7, 2007·Human Molecular Genetics·Shunji TomatsuWilliam S Sly
Jun 10, 2010·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Mary L BouxseinRalph Müller
Apr 22, 2011·Current Pharmaceutical Biotechnology·S TomatsuT Orii
Jun 4, 2011·Genetics and Molecular Biology·Roberto GiuglianiAna Maria Martins
Apr 9, 2013·Journal of Clinical Densitometry : the Official Journal of the International Society for Clinical Densitometry·Lynda E PolgreenKristine E Ensrud
May 15, 2013·Orphanet Journal of Rare Diseases·Hsiang-Yu LinShuan-Pei Lin
May 22, 2013·Molecular Therapy : the Journal of the American Society of Gene Therapy·Allison M BradburyDouglas R Martin
Apr 11, 2014·Science Translational Medicine·Victoria J McCurdyDouglas R Martin
Dec 30, 2014·Molecular Genetics and Metabolism·Shunji TomatsuTadao Orii
May 15, 2015·Molecular Genetics and Metabolism·Heather L Gray-EdwardsDouglas R Martin
Aug 9, 2016·The Application of Clinical Genetics·Cheryl A Lawson, Douglas R Martin
Apr 6, 2018·Current Gene Therapy·Maria Begona Cachon-GonzalezTimothy Martin Cox

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.