GM24676
LCL from B-Lymphocyte
Description:
MITOCHONDRIAL MYOPATHY
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
Swedish/German
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; symptom onset at age 48 years; diagnosed by specialist at age 53 years; rheumatoid arthritis; lupus; immunodeficiency; pain and weakness in arms and legs; fatigue; exercise intolerance; dizziness; balance disorder (vestibular testing showed a central process); headaches; blurry vision; syncope; hearing loss; excessive drooling; difficultly chewing; dysphagia; nausea; arrhythmia; sleep disturbances; decreased concentration, confusion, and memory loss; mild left ulnar nerve compression at elbow decreasing conduction velocity; mild left carpal tunnel syndrome; restless leg syndrome; ataxia; GERD (gastroesophageal reflux disease); colon polyps; urologic disorder; sciatica; osteoporosis; bowel and urinary incontinence; anemia; lymphadenopathy; lymphopenia; MRI of lumbosacral spine revealed 4mm of anterolistheses of L5 on S1, bulging disks, mild levocurvature and degenerative changes of lower lumbar spine; MRI of brain revealed mild chronic small vessel ischemic changes and incidental pineal gland cyst (1.0x1.0cm); EMG showed reduction in firing frequency of motor units; biopsy of vastus lateralis muscle revealed only rare degenerating/regenerating fibers; histochemistry slides of biopsy show extensive mitochondrial proliferation in almost all fibers, mild nonspecific abnormalities of the cristae, and glycogen interspersed through mitochondria - consistent with mitochondriopathy; biochemical profile for mitochondrial myopathy shows high levels of succinate dehydrogenase (2.19 mcmol/min/g [ref 0.45-1.29]), succinate cytochrome c reductase (1.95 mcmol/min/g [ref 0.42-1.65]), cytochrome c oxidase (4.66 mcmol/min/g [ref 1.03-3.83]), and citrate synthase (44.85 mcmol/min/g [ref 6.86-24.62]), serum CK level normal; citrate synthase activity found to be 6.6 standard deviations above the normal reference mean of 15.74 +/- 4.44 umol/min/g, partial reduction in complexes I and I-III; hematology panel revealed high neutrophil percentage, low lymphocyte count and percentage, low HCT, high MCV, and high MCH; low levels of IgA; high levels of ALT and AST; lymphocyte subset panel revealed high CD3 percentage, high CD4 percentage, low CD19 percentage, high CD56 percentage, low CD19 count; mitochondrial DNA sequence analysis was negative for pathogenic mutations; medications and supplements include: hydrocodone-acetaminophen, bisacodyl, esomeprazole, folic acid, linaclotide, lorazepam, meclizine, methotrexate, ondansetron, gabapentin, baclofen, meloxicam, Prilosec, melatonin; tylenol; allergic to plaquenil, sulfa drugs, tetracycline hcl; family history of stroke syndrome, hypertension, and heart disease; use of rollator walker; |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|