Assessment of plasma carnitine concentrations in relation to ceroid lipofuscinosis in Tibetan Terriers

Katz, Martin L.; Sanders, Deja A; Sanders, Douglas N.; Hansen, Elizabeth; Johnson, Gary S.

doi:10.2460/ajvr.2002.63.890

Cited by 6 publications

(3 citation statements)

References 25 publications

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“…In the current study, diet was not observed to influence plasma carnitine (total, free and esters) concentrations. Based on previously published data, using healthy control dogs, plasma carnitine was similar to concentrations in the current study (Katz et al, 2002; Keene et al, 1991; Sanderson, 2006; Soder et al, 2019). Differences were noted at Day 0 between mixed‐breed hounds and beagles for plasma carnitine, but by the end of the study no differences could be discerned.…”

Section: Discussionsupporting

confidence: 90%

Evaluation of taurine and carnitine concentrations in whole blood, plasma, skeletal muscle and cardiac muscle in dogs

McCauley,

Clark,

Leach

et al. 2024

Animal Physiology Nutrition

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Little is known about how plasma and whole blood taurine and plasma carnitine correlate to concentrations in skeletal and cardiac muscle and the effects of diet in dogs. The purpose of this study was to evaluate the correlation among plasma, skeletal and cardiac muscle carnitine and taurine and whole blood taurine and determine the effect of diet. The study protocol was approved by the Pet Food Solutions Institutional Animal Care and Use Committee. Thirty‐three mixed‐breed hounds and 32 beagles were evaluated at Day 0 then removed from their baseline diet and randomized to a test diet: high animal protein, grain‐inclusive (HA‐GI), low animal protein, grain‐free (LA‐GF), low animal protein, grain‐inclusive (LA‐GI), or high animal protein, grain‐free (HA‐GF). Blood was drawn every 30 days and endomyocardial (mixed breeds only) and skeletal muscle biopsies were collected at Days 0 and 180. The correlations between plasma and whole blood taurine, or plasma carnitine and skeletal and cardiac muscle concentrations were weak (p < 0.01–0.05). Mixed‐breed hounds had increased (p = 0.029) whole blood taurine compared to beagles. Plasma taurine was lower with diet HA‐GF, (p = 0.009) however, all diets had increased taurine from Day 0 and were, on average within the laboratory reference range. Dogs fed the HA‐GI diet had increased cardiac muscle carnitine esters (p = 0.014). Increased carnitine esters were also appreciated in cardiac muscle in all diets from Day 0 to 180 (p = 0.0001). On Day 180 mixed‐breed hounds had increased skeletal total carnitine (p < 0.001) compared to all time points and breeds. This study observed no correlation between plasma, whole blood, skeletal and cardiac muscle taurine concentrations but noted some effects between time, breed and diet.

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Section: Discussionsupporting

confidence: 90%

Evaluation of taurine and carnitine concentrations in whole blood, plasma, skeletal muscle and cardiac muscle in dogs

McCauley,

Clark,

Leach

et al. 2024

Animal Physiology Nutrition

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“…Compared to the affected Golden Retrievers, Dachshunds with mutations in PPT1 or TPP1, a Chinese Crested Dog with a mutation in MFSD8, and English Setters and a mixed breed dog with different CLN8 mutations all had diseases with earlier onsets of neurodegenerative signs [10,11,[14][15][16]. The onset of disease signs in Tibetan Terriers with NCL due to a mutation in ATP13A2 has occurred at a much later age (4 to 6 years) than that of the Golden Retrievers [35]. The ages at onset of clinical signs for Border Collies with a CLN5 mutation, an Australian Shepherd with a CLN6 mutation and American Bulldogs with a CTSD mutation were similar to those of the Golden Retrievers described here [13,23,26].…”

Section: Disease Phenotypementioning

confidence: 87%

Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5

Gilliam

Kolicheski

Johnson

et al. 2015

Molecular Genetics and Metabolism

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We studied a recessive, progressive neurodegenerative disease occurring in Golden Retriever siblings with an onset of signs at 15 months of age. As the disease progressed these signs included ataxia, anxiety, pacing and circling, tremors, aggression, visual impairment and localized and generalized seizures. A whole genome sequence, generated with DNA from one affected dog, contained a plausibly causal homozygous mutation: CLN5:c.934_935delAG. This mutation was predicted to produce a frameshift and premature termination codon and encode a protein variant, CLN5:p.E312Vfs*6, which would lack 39 C-terminal amino acids. Eighteen DNA samples from the Golden Retriever family members were genotyped at CLN5:c.934_935delAG. Three clinically affected dogs were homozygous for the deletion allele; whereas, the clinically normal family members were either heterozygotes (n = 11) or homozygous for the reference allele (n = 4). Among archived Golden Retrievers DNA samples with incomplete clinical records that were also genotyped at the CLN5:c.934_935delAG variant, 1053 of 1062 were homozygous for the reference allele, 8 were heterozygotes and one was a deletion-allele homozygote. When contacted, the owner of this homozygote indicated that their dog had been euthanized because of a neurologic disease that progressed similarly to that of the affected Golden Retriever siblings. We have collected and stored semen from a heterozygous Golden Retriever, thereby preserving an opportunity for us or others to establish a colony of CLN5-deficient dogs.

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“…NCL in Tibetan terriers has been extensively characterized in our laboratories by analysis of behavioural signs and examination of brain and retinal tissues for accumulation of disease-specific storage bodies (Katz et al 2002(Katz et al , 2005b. Behavioural changes typically first become apparent at 5-7 years of age and progress until the dogs are euthanized, usually by age 10 years.…”

Section: Animals and Tissuesmentioning

confidence: 99%

Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis

Katz

Sanders

Mooney

et al. 2007

J of Inher Metab Disea

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Summary The neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative diseases characterized by massive accumulation of autofluorescent storage bodies in neurons and other cells. A late‐onset form of NCL occurs in Tibetan terrier dogs. Gel electrophoretic analyses of isolated storage body proteins from brains of affected dogs indicated that a protein of approximately 50 kDa was consistently prominent and a 16 kDa component was present in some brain storage body preparations. Mass spectral analysis identified the 50 kDa protein as glial fibrillary acidic protein (GFAP), isoform 2. GFAP identification was supported by immunoblot and immunohistochemical analyses. Histone H4 was the major protein in the 16 kDa component. Specific accumulation of GFAP and histone H4 in storage bodies has not been previously reported for any of the NCLs. Tibetan terrier NCL may be the canine correlate of one of the human adult‐onset NCLs for which the genetic bases and storage body compositions have not yet been determined.

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Assessment of plasma carnitine concentrations in relation to ceroid lipofuscinosis in Tibetan Terriers

Cited by 6 publications

References 25 publications

Evaluation of taurine and carnitine concentrations in whole blood, plasma, skeletal muscle and cardiac muscle in dogs

Evaluation of taurine and carnitine concentrations in whole blood, plasma, skeletal muscle and cardiac muscle in dogs

Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5

Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis

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